SNP - dbSNP |
dbSNP | Type | Alleles | Het | Se(het) | Fxn-class | Gene Name | Assembly | Chr-pos | Sequence | Entrez Gene |
rs478911 | snp | A/C | 0.39121 | 0.2063 | intron-variant | OPTN | GRCh38.p7 | 10:13102281 | GGCCCAACTGACCCA[A/C]CAGAGTCACCTCCTG | 10133 |
rs489040 | snp | A/G | 0.499908 | 0.00678851 | intron-variant | OPTN | GRCh38.p7 | 10:13122596 | AGAAATATAGAAATC[A/G]TGTTGATATTGAATA | 10133 |
rs523747 | snp | A/G | 0.00530298 | 0.0512188 | missense | OPTN | GRCh38.p7 | 10:13124076 | CATACAAAACTCAGC[A/G]AAGCTGAGCTAATGA | 10133 |
rs530107 | snp | A/G | 0.388775 | 0.207946 | intron-variant | OPTN | GRCh38.p7 | 10:13106061 | AGCAGATTTTTAGAA[A/G]TGTGTTTGGTTTCAT | 10133 |
rs532144 | snp | A/G | 0.410399 | 0.191761 | intron-variant | OPTN | GRCh38.p7 | 10:13105808 | GATTCTCCTGCCTCA[A/G]CCTCCCAAGTAGCTG | 10133 |
rs545734 | snp | C/G | 0.335559 | 0.234904 | intron-variant | OPTN | GRCh38.p7 | 10:13117899 | TTTATGCCAATTACT[C/G]TGTTTGACGAAAGAA | 10133 |
rs546915 | snp | C/G | 0.35729 | 0.225807 | intron-variant | OPTN | GRCh38.p7 | 10:13103751 | ACACATGCACACACA[C/G]ACACACACACACACA | 10133 |
rs562895 | snp | C/T | 0.0644693 | 0.167566 | intron-variant, upstream-variant-2KB | OPTN, CCDC3 | GRCh38.p7 | 10:13101697 | CATGTGTATGAGGAG[C/T]ATTAGAATCTGTGTT | 10133 |
rs568122 | snp | C/T | 0.190205 | 0.242744 | intron-variant | OPTN | GRCh38.p7 | 10:13119241 | cagaaagcacattgc[C/T]tggaggagcagacag | 10133 |
rs577910 | snp | C/T | 0.0524604 | 0.153226 | intron-variant | OPTN | GRCh38.p7 | 10:13116679 | CTGGTCTGGGTCAAA[C/T]GGCACCGGGGAACCA | 10133 |
rs583277 | snp | C/T | 0.368733 | 0.220005 | intron-variant | OPTN | GRCh38.p7 | 10:13124875 | TTAACACAATGTATA[C/T]AGAAGAAATTACAAC | 10133 |
rs599557 | snp | A/G | 0.489318 | 0.0722982 | intron-variant | OPTN | GRCh38.p7 | 10:13117197 | gctactcgggaggct[A/G]aggcaggagaatggc | 10133 |
rs599988 | snp | C/T | 0.479984 | 0.0980171 | intron-variant | OPTN | GRCh38.p7 | 10:13117107 | ggcaacagaacaaga[C/T]tccgtctcaaaaaaa | 10133 |
rs658064 | snp | C/T | 0.428484 | 0.175052 | intron-variant | OPTN | GRCh38.p7 | 10:13121062 | ACCAGGTGGAGGTAA[C/T]TGAATCACGGGGGCA | 10133 |
rs660592 | snp | C/T | 0.453697 | 0.14494 | intron-variant | OPTN | GRCh38.p7 | 10:13106267 | AAAATAGGGTTTTAC[C/T]GAGTAACAGTGTTCC | 10133 |
rs674051 | snp | A/G | 0.327211 | 0.237778 | intron-variant | OPTN | GRCh38.p7 | 10:13126373 | gaatggcgtgaaccc[A/G]ggaggcggagcttgc | 10133 |
rs676302 | snp | A/C | 0.310632 | 0.242536 | intron-variant | OPTN | GRCh38.p7 | 10:13125860 | ACCTTCTGAACACTC[A/C]AGTAGAAAAATCTTC | 10133 |
rs676312 | snp | C/T | 0.0271762 | 0.113356 | intron-variant | OPTN | GRCh38.p7 | 10:13125857 | TTCTGAACACTCCAG[C/T]AGAAAAATCTTCTCG | 10133 |
rs678089 | snp | G/T | 0.030665 | 0.119967 | intron-variant | OPTN | GRCh38.p7 | 10:13119164 | acagtggttgcacaa[G/T]cctggaatattctaa | 10133 |
rs765884 | snp | C/T | 0.306679 | 0.24349 | intron-variant | OPTN | GRCh38.p7 | 10:13122332 | CTGTAATAATTGCTA[C/T]TTCTCTTAAAGCCAA | 10133 |
rs825411 | snp | C/T | 0.49999 | 0.00219646 | intron-variant | OPTN | GRCh38.p7 | 10:13127374 | GTGACTCGTTGATAC[C/T]GTTATTTTGCCACTT | 10133 |
rs1251134 | snp | A/C | 0.089084 | 0.191327 | intron-variant | OPTN | GRCh38.p7 | 10:13105254 | TCATGAATAGCTATA[A/C]CTGTCCTAATGACAG | 10133 |
rs1561570 | snp | C/T | 0.490997 | 0.0664859 | intron-variant | OPTN | GRCh38.p7 | 10:13113726 | CCTCTGTAGTATAGA[C/T]GGTCACTTTCGATGA | 10133 |
rs1659848 | snp | A/C | | | intron-variant | OPTN | GRCh38.p7 | 10:13117449 | caaaaaaaaaaaaaa[A/C]aaaaaaaaaCTCCAT | 10133 |
rs1761796 | snp | A/G | 0.312104 | 0.242163 | intron-variant | OPTN | GRCh38.p7 | 10:13120128 | gccgggactacaggc[A/G]cccgccaccacgccc | 10133 |
rs1761802 | snp | C/T | 0.0103295 | 0.0711199 | intron-variant | OPTN | GRCh38.p7 | 10:13109036 | AGTCCCACAAACCCA[C/T]TGGCGATTGCTAATA | 10133 |
rs1802343 | snp | G/T | | | stop-gained | OPTN | GRCh38.p7 | 10:13127838 | CAGCTGCAAATGGAT[G/T]AAATGAAGCAAACCA | 10133 |
rs2043947 | snp | C/G | 0.410737 | 0.191478 | intron-variant | OPTN | GRCh38.p7 | 10:13123481 | GTTTTAGTCAACAGG[C/G]AACTATTATTCACTG | 10133 |
rs2234968 | snp | A/G | 0.363207 | 0.22291 | synonymous-codon | OPTN | GRCh38.p7 | 10:13109224 | CCCAAACCTGGACAC[A/G]TTTACCCCGGAGGAG | 10133 |
rs2244380 | snp | A/G | 0.300843 | 0.244775 | intron-variant | OPTN | GRCh38.p7 | 10:13116262 | GCTTCTCCTTCCTGT[A/G]AAAACAGAAATGCAA | 10133 |
rs2277219 | snp | C/T | 0.000236694 | 0.0108762 | intron-variant | OPTN | GRCh38.p7 | 10:13122506 | AGTCCTAAGATTCCA[C/T]GGCCACTACCACACC | 10133 |
rs2304706 | snp | G/T | 0.224116 | 0.248656 | intron-variant | OPTN | GRCh38.p7 | 10:13108044 | GATATCTTTAGGTAT[G/T]GCATGGTCTGAAATT | 10133 |
rs2580914 | snp | A/T | 0.0685596 | 0.171987 | | | GRCh38.p7 | 10:13100386 | GGGCAGGGCGGCGGG[A/T]ACCGTTTTCAGGCCG | 10133 |
rs2580915 | snp | C/G | 0.0209421 | 0.100162 | | | GRCh38.p7 | 10:13100211 | ATGGGACGCTGACCA[C/G]GGAACCTGCCGGCGG | 10133 |
rs2895549 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | OPTN | GRCh38.p7 | 10:13111878 | cctgggcaacagagc[A/G]agactccatctcaaa | 10133 |
rs3740209 | snp | A/G | 0.432797 | 0.170544 | intron-variant | OPTN | GRCh38.p7 | 10:13131814 | ATTAATGGTACCTAC[A/G]GTATTTAAACTACCT | 10133 |
rs3814657 | snp | G/T | 0.277867 | 0.248442 | utr-variant-5-prime, upstream-variant-2KB | OPTN, CCDC3 | GRCh38.p7 | 10:13100087 | GAAATTCCCCGGCGC[G/T]GGCAGGGAGCGGCTG | 10133 |
rs3814658 | snp | C/T | 0.0482946 | 0.147699 | intron-variant | OPTN | GRCh38.p7 | 10:13118654 | ACGTGGGTGTGTGCA[C/T]TGTAAGCTGGCCTCT | 10133 |
rs3829923 | snp | C/T | 0.357664 | 0.225629 | upstream-variant-2KB, utr-variant-5-prime | OPTN, CCDC3 | GRCh38.p7 | 10:13099144 | ACCAACTCGAGGGCC[C/T]GGAATTGGGTCTGGG | 10133 |
rs3829924 | snp | A/G | 0.0948562 | 0.196037 | upstream-variant-2KB, utr-variant-5-prime | OPTN, CCDC3 | GRCh38.p7 | 10:13099608 | ATTCGTCCGCAACAA[A/G]AGCCCAAGAAGCATC | 10133 |
rs4748020 | snp | C/G | 0.350982 | 0.228698 | intron-variant, upstream-variant-2KB | OPTN, CCDC3 | GRCh38.p7 | 10:13100327 | GGCAGGGGGCTGCAG[C/G]GGTGGGCGAGGGGGC | 10133 |
rs4750310 | snp | A/G | 0.350982 | 0.228698 | intron-variant, upstream-variant-2KB | OPTN, CCDC3 | GRCh38.p7 | 10:13100782 | GTGTGTACACTCTAT[A/G]TAGAGAGAATATTTG | 10133 |
rs6602633 | snp | A/G | 0.343701 | 0.231776 | intron-variant | OPTN | GRCh38.p7 | 10:13134047 | CTCCTGACCTCAACT[A/G]ACCTGCCTGTCTCGG | 10133 |
rs7068431 | snp | C/T | 0 | 0 | missense | OPTN | GRCh38.p7 | 10:13124034 | AACCTCCAGGTGACA[C/T]CTCTGTTTAAGGAGC | 10133 |
rs7068612 | snp | C/G | 0.408871 | 0.193029 | intron-variant | OPTN | GRCh38.p7 | 10:13133860 | GTCGTCCAGGCTGGA[C/G]TGCAGTGGCGAGATC | 10133 |
rs7069456 | snp | C/T | 0.40386 | 0.197046 | intron-variant | OPTN | GRCh38.p7 | 10:13126435 | acaggcgcccgccac[C/T]gcgcccggctaattt | 10133 |
rs7072394 | snp | G/T | 0.0588605 | 0.161139 | intron-variant | OPTN | GRCh38.p7 | 10:13124429 | CTGATGACATTGATG[G/T]GAGTAAGCATAAAGA | 10133 |
rs7072752 | snp | A/G | 0.499942 | 0.00539106 | intron-variant, upstream-variant-2KB | OPTN, CCDC3 | GRCh38.p7 | 10:13100780 | GAGTGTGTACACTCT[A/G]TATAGAGAGAATATT | 10133 |
rs7078784 | snp | A/T | 0.350327 | 0.228986 | intron-variant | OPTN | GRCh38.p7 | 10:13136201 | GTCAAGAAAAAAAAG[A/T]AAAGAAAAGAAAAAA | 10133 |
rs7086894 | snp | A/C | 0.44546 | 0.155869 | intron-variant | OPTN | GRCh38.p7 | 10:13133682 | AATGGATTCCAAATC[A/C]AGGCACCAAAAATAT | 10133 |
rs7087090 | snp | A/G | 0.0260105 | 0.111035 | intron-variant | OPTN | GRCh38.p7 | 10:13136058 | caggtgtggtggcac[A/G]tgcctgtagtcgcag | 10133 |
rs7089453 | snp | C/T | 0.031825 | 0.122064 | intron-variant | OPTN | GRCh38.p7 | 10:13130960 | gtcacactcctgtca[C/T]ccaggctggagtgca | 10133 |
rs7095146 | snp | A/C | 0.491783 | 0.0635686 | intron-variant | OPTN | GRCh38.p7 | 10:13119409 | ttccttgctgaataa[A/C]cttccattgtctata | 10133 |
rs7475073 | snp | G/T | | | upstream-variant-2KB | OPTN, CCDC3 | GRCh38.p7 | 10:13100033 | ATGGAATGGGCAGGG[G/T]GGGGGGGATGGGCGG | 10133 |
rs7895403 | snp | A/G | 0.483636 | 0.0889627 | intron-variant | OPTN | GRCh38.p7 | 10:13112110 | cacctcggcctccca[A/G]agtgctgggattaca | 10133 |
rs7898510 | snp | C/T | 0 | 0 | intron-variant | OPTN | GRCh38.p7 | 10:13117955 | ACAATTCTTCACGTT[C/T]CCCCCAAATTGCTTT | 10133 |
rs7900633 | snp | A/G | 0.415727 | 0.187175 | intron-variant | OPTN | GRCh38.p7 | 10:13106467 | CACATAGATACAAAA[A/G]GTTCAAAAATGAATC | 10133 |
rs7905921 | snp | A/G | 0.239902 | 0.249796 | intron-variant | OPTN | GRCh38.p7 | 10:13111697 | tgagactctgtctgg[A/G]aaaaaaaaaTTGTCA | 10133 |
rs7907033 | snp | A/G | 0.282105 | 0.24793 | intron-variant | OPTN | GRCh38.p7 | 10:13129390 | acagagtctagctct[A/G]tcaccaggctggagt | 10133 |
rs7908114 | snp | C/T | | | intron-variant | OPTN | GRCh38.p7 | 10:13129490 | cccaagtagctggga[C/T]tacaggcgcacacca | 10133 |
rs7910995 | snp | C/T | 0.0263992 | 0.111815 | intron-variant | OPTN | GRCh38.p7 | 10:13135309 | GGTCAGGGCTTATTT[C/T]GAACATGCTCTGATT | 10133 |
rs7911161 | snp | A/C | 0.356383 | 0.226236 | intron-variant | OPTN | GRCh38.p7 | 10:13105362 | AAAGAATATTTTTCA[A/C]AGAGTTCATAAGGAT | 10133 |
rs7917051 | snp | C/T | 0.5 | 0 | intron-variant, upstream-variant-2KB | OPTN, CCDC3 | GRCh38.p7 | 10:13101402 | CCTCCACCCCCCCAC[C/T]CCCCCACCCACCCCC | 10133 |
rs7919563 | snp | A/C | 0.427575 | 0.175975 | intron-variant | OPTN | GRCh38.p7 | 10:13128292 | CAGAGTGGTTGGACC[A/C]GTTTTCACTCCCATC | 10133 |
rs7919764 | snp | A/C | 0.0115144 | 0.0749975 | intron-variant | OPTN | GRCh38.p7 | 10:13128420 | atttgcatttccctg[A/C]tcactaatgggaaag | 10133 |
rs7919908 | snp | C/T | 0.498437 | 0.0279115 | intron-variant | OPTN | GRCh38.p7 | 10:13107247 | AGGCATGGTGGCTGA[C/T]GCCTATAGTCCCAGC | 10133 |
rs7921853 | snp | G/T | 0.418814 | 0.184396 | intron-variant | OPTN | GRCh38.p7 | 10:13110666 | GTCATGGATAATCTC[G/T]TTTAGAAGAAAGAAA | 10133 |
rs10047381 | snp | A/C | 0 | 0 | missense | OPTN | GRCh38.p7 | 10:13110295 | TGAAGCTAAATAATC[A/C]AGCCATGAAAGGGAG | 10133 |
rs10450534 | snp | C/T | 0.00835141 | 0.0640778 | intron-variant | OPTN | GRCh38.p7 | 10:13114604 | AGATTTAGGAAGAAA[C/T]ATCAAAAATATCTAG | 10133 |
rs10752285 | snp | A/G | 0.376791 | 0.215463 | intron-variant | OPTN | GRCh38.p7 | 10:13115659 | TATATATATTTATAC[A/G]TATATACCTAGAACT | 10133 |
rs10752286 | snp | A/T | 0.49306 | 0.0584955 | intron-variant | OPTN | GRCh38.p7 | 10:13118103 | CACATGGCTATTTTT[A/T]AAATAACAGCTCTGT | 10133 |
rs10752287 | snp | C/T | 0.324382 | 0.238678 | intron-variant | OPTN | GRCh38.p7 | 10:13128888 | TGTATACTGCACATA[C/T]AAGTCTTTGTCAGTT | 10133 |
rs10796022 | snp | A/T | 0.0693013 | 0.172766 | upstream-variant-2KB, intron-variant | OPTN, CCDC3 | GRCh38.p7 | 10:13099045 | AAAAAGAATTTTTTT[A/T]AATTCTCTATTTCTC | 10133 |
rs10796023 | snp | C/T | 0.0209421 | 0.100162 | intron-variant | OPTN | GRCh38.p7 | 10:13111425 | ATCGTGGGCTAGGCA[C/T]GGTGGCTCACACCTG | 10133 |
rs10796024 | snp | C/T | 0.375598 | 0.21616 | intron-variant | OPTN | GRCh38.p7 | 10:13114761 | ACAATTATATAATTG[C/T]ATATATAATTATATA | 10133 |
rs10796026 | snp | C/T | 0.492679 | 0.0600586 | intron-variant | OPTN | GRCh38.p7 | 10:13118258 | TGAAAGAGTAGCTGC[C/T]GTTAGCATCATCATA | 10133 |
rs10796027 | snp | A/C | 0.417845 | 0.185278 | intron-variant | OPTN | GRCh38.p7 | 10:13127035 | TCTAAAAAAAGAAAA[A/C]AATAAATAAATTAGT | 10133 |
rs10796028 | snp | G/T | 0.421842 | 0.181577 | intron-variant | OPTN | GRCh38.p7 | 10:13127512 | ATAAGTTAGCGTTGC[G/T]GATTAATAGACTGGT | 10133 |
rs10796029 | snp | A/G | 0.427271 | 0.176281 | intron-variant | OPTN | GRCh38.p7 | 10:13128872 | AATGTAATGACTTCT[A/G]TGTATACTGCACATA | 10133 |
rs10906301 | snp | C/T | 0.456214 | 0.141336 | intron-variant | OPTN | GRCh38.p7 | 10:13102033 | TAATTTCAGAATGGG[C/T]GGAGGAGGTGGAAAT | 10133 |
rs10906302 | snp | A/G | 0.029116 | 0.117091 | intron-variant | OPTN | GRCh38.p7 | 10:13107524 | GCTGGGACTACAGGC[A/G]CCTGCCACCATGCTT | 10133 |
rs10906303 | snp | A/G | 0.298905 | 0.24517 | intron-variant | OPTN | GRCh38.p7 | 10:13109354 | ATGCCATCCCTTTGC[A/G]CTAAGGCTTGGTGGT | 10133 |
rs10906305 | snp | C/T | 0.331411 | 0.236373 | intron-variant | OPTN | GRCh38.p7 | 10:13126441 | GCCCGCCACCGCGCC[C/T]GGCTAATTTTTTGTA | 10133 |
rs10906306 | snp | A/G | 0.380919 | 0.21298 | intron-variant | OPTN | GRCh38.p7 | 10:13128382 | TTAACCACTCTGGAG[A/G]GTATATAGTGGTATC | 10133 |
rs10906307 | snp | C/G | 0.332106 | 0.236133 | intron-variant | OPTN | GRCh38.p7 | 10:13128429 | TCCCTGATCACTAAT[C/G]GGAAAGAGTACTTTT | 10133 |
rs10906308 | snp | A/G | 0.331642 | 0.236293 | intron-variant | OPTN | GRCh38.p7 | 10:13128467 | TTTTTGGCCTTTGAG[A/G]TATCCTCTTTTGTGA | 10133 |
rs10906309 | snp | G/T | 0.333952 | 0.235483 | intron-variant | OPTN | GRCh38.p7 | 10:13131146 | GGCTGTCAGCAGGAG[G/T]CCTCAGTTCCTCACC | 10133 |
rs10906310 | snp | A/C | 0.389469 | 0.207481 | intron-variant | OPTN | GRCh38.p7 | 10:13136697 | CAAGTGAAACAAACA[A/C]AACTGCCTGCAAAAT | 10133 |
rs11258186 | snp | A/G | 0.0995161 | 0.199636 | intron-variant | OPTN | GRCh38.p7 | 10:13103649 | ATCATTTCTAAGGCC[A/G]ACTCAGCAATCAGAT | 10133 |
rs11258187 | snp | C/G | | | intron-variant | OPTN | GRCh38.p7 | 10:13104586 | ATACTCATTCCAAGG[C/G]TTCTAACATGAGGAT | 10133 |
rs11258188 | snp | C/T | 0.00119737 | 0.0244387 | intron-variant | OPTN | GRCh38.p7 | 10:13104944 | TGGTGGTAACTACGC[C/T]GACGTGCGAGCTCTG | 10133 |
rs11258189 | snp | G/T | | | intron-variant | OPTN | GRCh38.p7 | 10:13107436 | catgctggagtgcag[G/T]ggcacgatctcggct | 10133 |
rs11258190 | snp | G/T | 0.357451 | 0.225731 | intron-variant | OPTN | GRCh38.p7 | 10:13107551 | GCTTGGCTAATTTTT[G/T]GTATTTTTTTTATTA | 10133 |
rs11258191 | snp | A/G | 0.00636936 | 0.0560724 | intron-variant | OPTN | GRCh38.p7 | 10:13108040 | AAAAAATTTCAGACC[A/G]TGCAATACCTAAAGA | 10133 |
rs11258192 | snp | A/G | | | intron-variant | OPTN | GRCh38.p7 | 10:13108732 | tttgtatttttagta[A/G]agacggggtttcact | 10133 |
rs11258193 | snp | G/T | 0.144969 | 0.226867 | intron-variant | OPTN | GRCh38.p7 | 10:13109610 | GCAGAAGGATTGCTT[G/T]AGTACAGGAGTTCAA | 10133 |
rs11258194 | snp | A/T | 0.0862981 | 0.188949 | OPTN | 10 | allele_origin=T(germline)/A(germline) | 10:13110400 | CAAAAGAGCGTCTAA[A/T]GGCCTTGAGTCATGA | 10133 |
rs11258195 | snp | A/G | 0.34101 | 0.232846 | intron-variant | OPTN | GRCh38.p7 | 10:13111993 | gctgggactacaggc[A/G]cccgccaccacgccc | 10133 |
rs11258196 | snp | A/G | 0.393619 | 0.204631 | intron-variant | OPTN | GRCh38.p7 | 10:13112141 | ggcgtgagccaccac[A/G]cctggctTGGCtttt | 10133 |
rs11258197 | snp | A/G | | | intron-variant | OPTN | GRCh38.p7 | 10:13112173 | TTTTTTTTTTTTTGA[A/G]ACAGGGTCTTGgcag | 10133 |
rs11258198 | snp | C/T | 0.0532157 | 0.154195 | intron-variant | OPTN | GRCh38.p7 | 10:13114304 | TTTCAGTGGCCAAAA[C/T]CAAGATAATTAAAAT | 10133 |
rs11258199 | snp | C/T | | | intron-variant | OPTN | GRCh38.p7 | 10:13114747 | GTAGAATATATTCTA[C/T]AATTATATAATTGCA | 10133 |
rs11258200 | snp | A/G | | | intron-variant | OPTN | GRCh38.p7 | 10:13114804 | TATAATTATATATAC[A/G]TATATATAATTATAT | 10133 |
rs11258201 | snp | G/T | | | intron-variant | OPTN | GRCh38.p7 | 10:13114851 | AATTATATAATTGTA[G/T]AATATATTCTACAAT | 10133 |
rs11258202 | snp | G/T | | | intron-variant | OPTN | GRCh38.p7 | 10:13114879 | AATTATATAATTGTA[G/T]TATATACACTTACAT | 10133 |
rs11258203 | snp | A/T | | | intron-variant | OPTN | GRCh38.p7 | 10:13115071 | TATATGTATATATAT[A/T]TATATATATAGATAT | 10133 |
rs11258204 | snp | A/T | | | intron-variant | OPTN | GRCh38.p7 | 10:13115073 | TATGTATATATATTT[A/T]TATATATAGATATAT | 10133 |
rs11258205 | snp | A/C | | | intron-variant | OPTN | GRCh38.p7 | 10:13115123 | ATATATTATATATAT[A/C]TATAAATTTATAATA | 10133 |
rs11258206 | snp | A/T | | | intron-variant | OPTN | GRCh38.p7 | 10:13115159 | ATATCTATATATTTA[A/T]ATATAGATATATCTA | 10133 |
rs11258207 | snp | A/C/T | | | intron-variant | OPTN | GRCh38.p7 | 10:13115191 | ATTTTATATATATAT[A/C/T]TATAGATATATCTAT | 10133 |
rs11258208 | snp | A/T | | | intron-variant | OPTN | GRCh38.p7 | 10:13115491 | TATAATATATTCTAT[A/T]TTATATAATATAGAA | 10133 |
rs11258209 | snp | A/G/T | 0.505129 | 0.0357024 | intron-variant | OPTN | GRCh38.p7 | 10:13115527 | ATAATATATTCTATA[A/G/T]TATATAATATAGAAT | 10133 |
rs11258210 | snp | A/G | 0.018811 | 0.0951401 | intron-variant | OPTN | GRCh38.p7 | 10:13116257 | ATCCCTTGCATTTCT[A/G]TTTTCACAGGAAGGA | 10133 |
rs11258211 | snp | A/G | 0.049334 | 0.149108 | intron-variant | OPTN | GRCh38.p7 | 10:13116364 | AGGAAGACTCGGGCT[A/G]TCAGGCAGACAGGCT | 10133 |
rs11258214 | snp | A/G | 0.148661 | 0.22854 | intron-variant | OPTN | GRCh38.p7 | 10:13119804 | ttccctagtgacagc[A/G]atgttgagcatcttt | 10133 |
rs11258215 | snp | C/G | 0 | 0 | intron-variant | OPTN | GRCh38.p7 | 10:13124121 | GAAAAGTAAGAATGA[C/G]AGAGCAATTTTATCC | 10133 |
rs11258216 | snp | A/G | 0.0501905 | 0.150254 | intron-variant | OPTN | GRCh38.p7 | 10:13126367 | ctcactgcaagctcc[A/G]cctcctgggttcacg | 10133 |
rs11258217 | snp | C/T | 0.380724 | 0.213099 | intron-variant | OPTN | GRCh38.p7 | 10:13128498 | AGTGCCTTATCAAGC[C/T]TGCCTTTTTTTTTTT | 10133 |
rs11258218 | snp | A/G | 0 | 0 | intron-variant | OPTN | GRCh38.p7 | 10:13133144 | Aaaatgatcactgta[A/G]gtattgttctgcagc | 10133 |
rs11258219 | snp | A/G | 0.33693 | 0.2344 | intron-variant | OPTN | GRCh38.p7 | 10:13136191 | GACTCCATCTGTCAA[A/G]AAAAAAAAGTAAAGA | 10133 |
rs11548141 | snp | A/G | | | utr-variant-3-prime | OPTN | GRCh38.p7 | 10:13137185 | TCGCGAGGTTGAGGC[A/G]GGAGAATTGCTTGAA | 10133 |
rs11548142 | snp | A/G | 0.286303 | 0.24735 | utr-variant-5-prime, upstream-variant-2KB | OPTN, CCDC3 | GRCh38.p7 | 10:13100251 | GAGTTCTCTCCAGGC[A/G]GCACGATGCCGAGGA | 10133 |
rs11591687 | snp | A/G | 0.0142858 | 0.0832995 | synonymous-codon | OPTN | GRCh38.p7 | 10:13109245 | CCCGGAGGAGCTGCT[A/G]CAGCAGATGAAAGAG | 10133 |
rs11592919 | snp | A/G | 0.00279162 | 0.0372561 | intron-variant | OPTN | GRCh38.p7 | 10:13111451 | acctgtaatcccagc[A/G]ctttgggaggctagg | 10133 |
rs11594266 | snp | C/T | 0.177182 | 0.23916 | intron-variant | OPTN | GRCh38.p7 | 10:13136497 | tgggtgacagcgaga[C/T]tccgtctcaaaaaaa | 10133 |
rs11816478 | snp | C/T | 0.0399052 | 0.1355 | intron-variant | OPTN | GRCh38.p7 | 10:13125038 | AGAAACTAAAGTCTT[C/T]GCAATTGACAGAACC | 10133 |
rs11819428 | snp | G/T | | | intron-variant | OPTN | GRCh38.p7 | 10:13110533 | CCTTGACATTTGCAG[G/T]GGAATCTTACGTGTC | 10133 |
rs11819519 | snp | A/C | 0.021333 | 0.101051 | intron-variant | OPTN | GRCh38.p7 | 10:13111302 | TCAGATTATTCCAGC[A/C]TGGCAAGGAAGGCTT | 10133 |
rs12218126 | snp | A/T | | | intron-variant | OPTN | GRCh38.p7 | 10:13114880 | ATtatataattgtat[A/T]atatacacttacata | 10133 |
rs12218266 | snp | A/G | | | intron-variant | OPTN | GRCh38.p7 | 10:13112821 | TATCATAGCTAAAAT[A/G]GAAAAATATTAATTA | 10133 |
rs12218951 | snp | A/G | | | intron-variant | OPTN | GRCh38.p7 | 10:13114760 | tacaattatataatt[A/G]catatataattatat | 10133 |
rs12220573 | snp | C/T | 0 | 0 | utr-variant-3-prime | OPTN | GRCh38.p7 | 10:13138183 | GGTAGGGATTTGCCT[C/T]GTTTTGTAAGTCTAC | 10133 |
rs12254514 | snp | G/T | | | intron-variant | OPTN | GRCh38.p7 | 10:13128537 | tttttttttttttgg[G/T]ttggtttgcctggca | 10133 |
rs12261315 | snp | A/C | 0.152667 | 0.230274 | intron-variant | OPTN | GRCh38.p7 | 10:13111501 | tgaggagttcgagac[A/C]agcctggccaacatg | 10133 |
rs12261623 | snp | C/T | 0.0528381 | 0.153711 | intron-variant | OPTN | GRCh38.p7 | 10:13111992 | agctgggactacagg[C/T]gcccgccaccacgcc | 10133 |
rs12412399 | snp | C/T | 0 | 0 | intron-variant | OPTN | GRCh38.p7 | 10:13123813 | CAAAACTTAGCAAAC[C/T]TAAGTACCAAGTATC | 10133 |
rs12415683 | snp | A/G | 0.29046 | 0.246704 | intron-variant | OPTN | GRCh38.p7 | 10:13130872 | AAAACACTATTAAGT[A/G]TTTTGTTATTTATAA | 10133 |
rs12415716 | snp | G/T | 0.294064 | 0.246086 | downstream-variant-500B | OPTN | GRCh38.p7 | 10:13138287 | CATTTAAGAAAAAAT[G/T]AAAAGATCTCTTTTG | 10133 |
rs12415802 | snp | C/T | 0.478768 | 0.100824 | intron-variant | OPTN | GRCh38.p7 | 10:13108909 | ATGCACACATGCGCG[C/T]GCACACACACACACA | 10133 |
rs12416463 | snp | C/T | 0.0275645 | 0.114116 | intron-variant | OPTN | GRCh38.p7 | 10:13125299 | ATGTATTTCATTTTG[C/T]ATTCATAAACCCTAC | 10133 |
rs12573716 | snp | A/G | 0.316243 | 0.241064 | intron-variant | OPTN | GRCh38.p7 | 10:13111363 | TGATTATTTGAATAC[A/G]ATAAAATAATGTAAA | 10133 |
rs12764426 | snp | G/T | | | intron-variant | OPTN | GRCh38.p7 | 10:13111845 | TTTGTTTTTTGACTG[G/T]ttttttttttttttt | 10133 |
rs12766076 | snp | C/T | 0.403684 | 0.197183 | intron-variant | OPTN | GRCh38.p7 | 10:13136057 | CCAGGTGTGGTGGCA[C/T]GTGCCTGTAGTCGCA | 10133 |
rs12775703 | snp | G/T | | | intron-variant | OPTN | GRCh38.p7 | 10:13104274 | ttttttttttttttt[G/T]tgtgagacagggtct | 10133 |
rs17152853 | snp | A/G | 0.0217236 | 0.101931 | intron-variant | OPTN | GRCh38.p7 | 10:13125235 | TTTTTATGTTTAGGC[A/G]TAAGGGTTCAGAAAT | 10133 |
rs17152865 | snp | C/G | 0.0887219 | 0.191022 | intron-variant | OPTN | GRCh38.p7 | 10:13129769 | CTATGTCCTCACATT[C/G]TTGCATTATTTTAAA | 10133 |
rs17512753 | snp | A/T | 0.021333 | 0.101051 | intron-variant | OPTN | GRCh38.p7 | 10:13122125 | ATTGCTGCATAGGAC[A/T]GTTGCATGGAAACAA | 10133 |
rs17512962 | snp | A/G | 0.282632 | 0.247861 | intron-variant | OPTN | GRCh38.p7 | 10:13127066 | AATAATGCCAGCATG[A/G]TGTGATAGTTTAGAG | 10133 |
rs28372333 | snp | A/T | | | intron-variant | OPTN | GRCh38.p7 | 10:13114997 | GATATATCTATATTT[A/T]TATATATTTATATAT | 10133 |
rs28441188 | snp | G/T | | | intron-variant | OPTN | GRCh38.p7 | 10:13114982 | ATATATTTATATATA[G/T]ATATATCTATATTTA | 10133 |
rs28480223 | snp | A/T | | | intron-variant | OPTN | GRCh38.p7 | 10:13115003 | TCTATATTTATATAT[A/T]TTTATATATATAGAT | 10133 |
rs28816221 | snp | C/G/T | | | intron-variant | OPTN | GRCh38.p7 | 10:13115029 | TAGATATATCTATAT[C/G/T]TATATATTTTTATAT | 10133 |
rs28850935 | snp | A/T | | | intron-variant | OPTN | GRCh38.p7 | 10:13115037 | TCTATATTTATATAT[A/T]TTTATATATAGATAT | 10133 |
rs28886056 | snp | A/T | | | intron-variant | OPTN | GRCh38.p7 | 10:13115007 | TATTTATATATATTT[A/T]TATATATAGATATAT | 10133 |
rs28939688 | snp | A/G | | | missense | OPTN | GRCh38.p7 | 10:13109270 | AAAGAGCTCCTGACC[A/G]AGAACCACCAGCTGA | 10133 |
rs33911800 | in-del | -/A/AAG/AG/G | | | intron-variant | OPTN | GRCh38.p7 | 10:13109853 | AAAAAAAAAAAAAAA[-/A/AAG/AG/G]AGGAAAAAGGAAGAA | 10133 |
rs33950010 | in-del | -/CC | | | intron-variant | OPTN | GRCh38.p7 | 10:13109937 | CCTGGTATCTCAAGA[-/CC]TGGCTTTGGGCAGGA | 10133 |
rs34104948 | in-del | -/G | 0.4087 | 0.193169 | intron-variant | OPTN | GRCh38.p7 | 10:13129572 | AGCCATGGTGGTCTC[-/G]GAACAGTTGACCTCA | 10133 |
rs34105780 | in-del | -/T | 0.494484 | 0.0522255 | intron-variant | OPTN | GRCh38.p7 | 10:13108545 | ATCCTTATTGTACCC[-/T]TTTTTTTTTTTTTTT | 10133 |
rs34165825 | in-del | -/A | 0.493154 | 0.0581045 | intron-variant | OPTN | GRCh38.p7 | 10:13111536 | AACCCCATCTCTACT[-/A]AAAATACAAAAATTA | 10133 |
rs34210203 | in-del | -/T | | | intron-variant | OPTN | GRCh38.p7 | 10:13127451 | TTATCACCTTTTTTT[-/T]AGGAATTCATTATTT | 10133 |
rs34272939 | in-del | -/T | | | upstream-variant-2KB, utr-variant-5-prime | OPTN, CCDC3 | GRCh38.p7 | 10:13099718 | GATGTTAACCTTTTT[-/T]CAAAAAACACAGATG | 10133 |
rs34275587 | snp | A/G | 0.400682 | 0.199487 | intron-variant | OPTN | GRCh38.p7 | 10:13121843 | AGTAGAGTTTGGGCT[A/G]GGAAAAAAATTGCAT | 10133 |
rs34327051 | in-del | -/AA/AATA | 0.323434 | 0.238972 | intron-variant | OPTN | GRCh38.p7 | 10:13114879 | ATTATATAATTGTAT[-/AA/AATA]TATATACACTTACAT | 10133 |
rs34443088 | in-del | -/G | | | downstream-variant-500B | OPTN | GRCh38.p7 | 10:13138524 | TTTCTTTGTTATGGT[-/G]TTCTAATGTAAATTT | 10133 |
rs34546097 | in-del | -/T | | | intron-variant | OPTN | GRCh38.p7 | 10:13108374 | TTAAAACAGCTTTTT[-/T]GAGATAGAATTCACT | 10133 |
rs34617995 | in-del | -/T | 0.375 | 0.216506 | intron-variant | OPTN | GRCh38.p7 | 10:13110505 | TCCATTGTGATGTTG[-/T]TTTTTTTTTTTCCCT | 10133 |
rs34623086 | in-del | -/A | 0.487621 | 0.0776941 | intron-variant | OPTN | GRCh38.p7 | 10:13109671 | CTCTACAAAAAAATT[-/A]AAAAAAAAAAAAAAA | 10133 |
rs34650519 | in-del | -/A | | | frameshift-variant | OPTN | GRCh38.p7 | 10:13136849 | TACAGATTCACGTGA[-/A]TGGATTGCATCATTT | 10133 |
rs34751144 | in-del | -/AG | | | intron-variant | OPTN | GRCh38.p7 | 10:13116994 | AGTGCTCACCAAGGA[-/AG]GACTGCTAGCTCGCC | 10133 |
rs34790606 | in-del | -/C | | | intron-variant | OPTN | GRCh38.p7 | 10:13125084 | ATATAAAAGATATCC[-/C]ACACATCACTACATG | 10133 |
rs34844442 | in-del | -/T | | | intron-variant | OPTN | GRCh38.p7 | 10:13104444 | TTTTTTTTTTTTTTT[-/T]ACTATTACAAAATTT | 10133 |
rs34921491 | in-del | -/TA | | | intron-variant | OPTN | GRCh38.p7 | 10:13114885 | TAATTGTATTATATA[-/TA]CACTTACATATGTAT | 10133 |
rs34942122 | in-del | -/TT | | | intron-variant | OPTN | GRCh38.p7 | 10:13111845 | TTGTTTTTTGACTGT[-/TT]TTTTTTTTTTTTTTT | 10133 |
rs35072879 | in-del | -/C | | | upstream-variant-2KB, intron-variant | OPTN, CCDC3 | GRCh38.p7 | 10:13098475 | GAGCCACCGTGCCCC[-/C]ACCTATAGGGTTTTA | 10133 |
rs35137271 | in-del | -/T/TT | | | intron-variant | OPTN | GRCh38.p7 | 10:13117098 | TTTTTTTTTTTTTTT[-/T/TT]GAGACGGAATCTTGT | 10133 |
rs35247644 | snp | C/T | 0.0973687 | 0.197999 | upstream-variant-2KB, intron-variant | OPTN, CCDC3 | GRCh38.p7 | 10:13098877 | GAGTACCATCATGCC[C/T]GGCTAATTTTTGTAT | 10133 |
rs35248101 | snp | A/C | 0.0337553 | 0.125452 | intron-variant | OPTN | GRCh38.p7 | 10:13129617 | GGGATTACGGGCGTG[A/C]GCCACCGTGCCTGGC | 10133 |
rs35284693 | in-del | -/T | 0.499104 | 0.0211472 | intron-variant | OPTN | GRCh38.p7 | 10:13119982 | CAACTATTTTCTTTC[-/T]TTTTTTTTTTTTTTT | 10133 |
rs35346224 | in-del | -/C | | | intron-variant | OPTN | GRCh38.p7 | 10:13117606 | GCCGCCACCACGCCC[-/C]AGCTAACTTTTTGTG | 10133 |
rs35347215 | in-del | -/C | | | intron-variant | OPTN | GRCh38.p7 | 10:13111422 | AAATCGTGGGCTAGG[-/C]CATGGTGGCTCACAC | 10133 |
rs35413665 | in-del | -/G | | | intron-variant | OPTN | GRCh38.p7 | 10:13133460 | TGTCATGTTTCGGGG[-/G]TTGTAGAACATCACA | 10133 |
rs35429938 | in-del | -/T | | | intron-variant | OPTN | GRCh38.p7 | 10:13131117 | TAGCGATGAGGTTTT[-/T]GCCATGTTGCCCAGG | 10133 |
rs35516668 | in-del | -/A | | | intron-variant | OPTN | GRCh38.p7 | 10:13121527 | AAAAAAAAAAAAAAA[-/A]GTGTTACATAGAAAT | 10133 |
rs35676775 | in-del | -/G | | | intron-variant | OPTN | GRCh38.p7 | 10:13131424 | GTGACCACACATGGG[-/G]ACATGGATTGAATAT | 10133 |
rs35861981 | in-del | -/A | | | splice-donor-variant, upstream-variant-2KB | OPTN, CCDC3 | GRCh38.p7 | 10:13100302 | CAAGCCGGGCGGCAG[-/A]GTGAGCCAGGGCAGG | 10133 |
rs41291307 | snp | C/T | 0.00795532 | 0.062565 | intron-variant | OPTN | GRCh38.p7 | 10:13108110 | TAAAGCCTAAGTACT[C/T]AGTAATATAACTTTG | 10133 |
rs41291309 | snp | A/G | 0.0573587 | 0.15934 | utr-variant-5-prime, intron-variant | OPTN | GRCh38.p7 | 10:13108265 | ATTAGTCAGTGACAG[A/G]CCTGGTGTGCTGAGT | 10133 |
rs55818930 | snp | A/C | 0.421051 | 0.182323 | intron-variant | OPTN | GRCh38.p7 | 10:13107378 | AGACTCTCAAAAAAC[A/C]AAAACAGTCTTTTTT | 10133 |
rs56147136 | in-del | -/TT | | | intron-variant | OPTN | GRCh38.p7 | 10:13128533 | TTTTTTTTTTTTTTT[-/TT]GGTTTGGTTTGCCTG | 10133 |
rs56156496 | snp | A/G | 0.00953873 | 0.0683987 | intron-variant | OPTN | GRCh38.p7 | 10:13126588 | CCCGGCCAGCACTTC[A/G]TATTTCTAAGGATAG | 10133 |
rs56210619 | snp | C/T | | | intron-variant | OPTN | GRCh38.p7 | 10:13128446 | GAAAGAGTACTTTTT[C/T]AAGTGTTTTTGGCCT | 10133 |
rs56220050 | in-del | -/TGTG | 0.426966 | 0.176587 | intron-variant | OPTN | GRCh38.p7 | 10:13128477 | TGAGGTATCCTCTTT[-/TGTG]TTGTGAAGTGCCTTA | 10133 |
rs57057378 | snp | A/G | 0.298144 | 0.245321 | intron-variant | OPTN | GRCh38.p7 | 10:13118035 | GGTTGAAATATCAAA[A/G]CCACTTCCTCATCAT | 10133 |
rs57095859 | snp | A/C | | | intron-variant | OPTN | GRCh38.p7 | 10:13128447 | AAAGAGTACTTTTTC[A/C]AGTGTTTTTGGCCTT | 10133 |
rs57199113 | snp | C/T | 0.298398 | 0.245271 | intron-variant | OPTN | GRCh38.p7 | 10:13118212 | ATTTAATCCTGGCTG[C/T]TTATTAGCTATGCGA | 10133 |
rs57619737 | in-del | -/CC | 0.0283406 | 0.115616 | intron-variant | OPTN | GRCh38.p7 | 10:13109936 | TCCTGGTATCTCAAG[-/CC]ATGGCTTTGGGCAGG | 10133 |
rs58505537 | snp | A/G | 0.278133 | 0.248412 | intron-variant | OPTN | GRCh38.p7 | 10:13117362 | TGGGATTACAGGCAT[A/G]AGCCACCGCGCCCGG | 10133 |
rs58639299 | snp | A/G | | | intron-variant | OPTN | GRCh38.p7 | 10:13125112 | ATGAGAAGCGCCTTA[A/G]CTAATTACTACTGTG | 10133 |
rs59430068 | snp | A/G | 0.0256215 | 0.110247 | intron-variant | OPTN | GRCh38.p7 | 10:13128876 | TAATGACTTCTATGT[A/G]TACTGCACATACAAG | 10133 |
rs59554572 | snp | G/T | 0.124144 | 0.21601 | intron-variant | OPTN | GRCh38.p7 | 10:13122683 | ATGTATTTCTTTTTT[G/T]TTGTTGTTGTTGGAG | 10133 |
rs60221241 | snp | C/T | 0.19646 | 0.2442 | intron-variant | OPTN | GRCh38.p7 | 10:13110124 | AAGCAAAAACCACTT[C/T]GTCTTTTTGCTGCTG | 10133 |
rs60399947 | snp | A/G | 0.219947 | 0.248187 | intron-variant | OPTN | GRCh38.p7 | 10:13110117 | TTTCTGTAAGCAAAA[A/G]CCACTTCGTCTTTTT | 10133 |
rs60474180 | snp | C/T | | | intron-variant | OPTN | GRCh38.p7 | 10:13128364 | ATTATCAGTCATTTT[C/T]CTTTAACCACTCTGG | 10133 |
rs60708115 | in-del | -/A | 0.362104 | 0.223456 | intron-variant, upstream-variant-2KB | OPTN, CCDC3 | GRCh38.p7 | 10:13101407 | CCCCCCCACCCCCCC[-/A]ACCCACCCCCGGAAA | 10133 |
rs60868808 | in-del | -/A | | | intron-variant | OPTN | GRCh38.p7 | 10:13109672 | TCTACAAAAAAATTA[-/A]AAAAAAAAAAAAAAA | 10133 |
rs60982439 | in-del | -/TT | | | intron-variant | OPTN | GRCh38.p7 | 10:13104274 | TTTTTTTTTTTTTTT[-/TT]GTGAGACAGGGTCTC | 10133 |
rs61018153 | in-del | -/CTTTTTTT/T | | | intron-variant | OPTN | GRCh38.p7 | 10:13126284 | TTTTTTTTTTTTTTT[-/CTTTTTTT/T]GAGACGGAGTCTCGC | 10133 |
rs61130793 | snp | C/T | | | intron-variant | OPTN | GRCh38.p7 | 10:13128503 | CTTATCAAGCCTGCC[C/T]TTTTTTTTTTTTTTT | 10133 |
rs61485003 | snp | A/G | 0.00795532 | 0.062565 | intron-variant | OPTN | GRCh38.p7 | 10:13102481 | CAACAGATATTTACC[A/G]AGTCCTGCCTTCTAT | 10133 |
rs61743995 | snp | C/T | 0.389903 | 0.207189 | intron-variant | OPTN | GRCh38.p7 | 10:13104634 | CCACCATTCCAGTAT[C/T]GTTCTGTTGCCCACT | 10133 |
rs61851420 | snp | A/G | 0.368529 | 0.220116 | upstream-variant-2KB, intron-variant | OPTN, CCDC3 | GRCh38.p7 | 10:13098781 | GAGTGCAGTGGCATG[A/G]TCTCGGCTCGCTGCA | 10133 |
rs61851423 | snp | C/T | 0.458545 | 0.137872 | intron-variant | OPTN | GRCh38.p7 | 10:13107412 | TTTTTTTTTTGAGAC[C/T]CTGTCGCCCATGCTG | 10133 |
rs61851424 | snp | G/T | 0.5 | 0 | intron-variant | OPTN | GRCh38.p7 | 10:13108561 | TTTTTTTTTTTTTTG[G/T]TTTGAGACGGAGTCT | 10133 |
rs61851425 | snp | C/T | 4.98666e-05 | 0.00499308 | intron-variant | OPTN | GRCh38.p7 | 10:13109322 | TGTGTGCCCCATTCA[C/T]CCTGGGCCTGCAAGA | 10133 |
rs61851440 | snp | G/T | 0.5 | 0 | intron-variant | OPTN | GRCh38.p7 | 10:13132844 | ACACAGCAAAATTCA[G/T]AGAATAAAATAACAG | 10133 |
rs61851441 | snp | A/G | 0.5 | 0 | intron-variant | OPTN | GRCh38.p7 | 10:13135432 | CCTGTTCATTCTCAA[A/G]GCCCCTCTCAAGTTA | 10133 |
rs62950361 | snp | G/T | 0 | 0 | intron-variant | OPTN | GRCh38.p7 | 10:13108559 | CTTTTTTTTTTTTTT[G/T]GGTTTGAGACGGAGT | 10133 |
rs67121368 | snp | A/T | 0.29278 | 0.246313 | intron-variant | OPTN | GRCh38.p7 | 10:13132759 | CACTTTAAATTCCTG[A/T]ATATTCTTTAAAAAA | 10133 |
rs67232903 | in-del | -/T | 0 | 0 | upstream-variant-2KB, intron-variant | OPTN, CCDC3 | GRCh38.p7 | 10:13099045 | GAGAAATAGAGAATT[-/T]AAAAAAATTCTTTTT | 10133 |
rs67295059 | snp | A/G | 0.292266 | 0.246401 | intron-variant | OPTN | GRCh38.p7 | 10:13121104 | CACATGGGGATTATG[A/G]GGATTACAATTCAAG | 10133 |
rs67406260 | in-del | -/ACAC | | | intron-variant | OPTN | GRCh38.p7 | 10:13108918 | GCGCGTGCACACACA[-/ACAC]CACACACTTTTCTGA | 10133 |
rs67978856 | snp | A/G | 0.299158 | 0.245119 | intron-variant | OPTN | GRCh38.p7 | 10:13120383 | GATGTAATACAGTTT[A/G]TCTCCTTTTTCTTTT | 10133 |
rs67982136 | in-del | -/C | 0.5 | 0 | intron-variant | OPTN | GRCh38.p7 | 10:13128502 | CTTATCAAGCCTGCC[-/C]TTTTTTTTTTTTTTT | 10133 |
rs71386153 | in-del | -/CTT/GT/T/TT | 0 | 0 | intron-variant | OPTN | GRCh38.p7 | 10:13102958 | AATATTTATTTTTTC[-/CTT/GT/T/TT]TTTTTTTTTTTAAAT | 10133 |
rs71386156 | in-del | -/GT/GTGT | 0.625 | 0.125 | intron-variant | OPTN | GRCh38.p7 | 10:13108925 | TGTAGCTTCAGAAAA[-/GT/GTGT]GTGTGTGTGTGTGTG | 10133 |
rs71386158 | in-del | -/A/TATATAAT | 0 | 0 | intron-variant | OPTN | GRCh38.p7 | 10:13114800 | AATTATATATATGTA[-/A/TATATAAT]TATATAATTATATAA | 10133 |
rs71386159 | in-del | -/C | 0 | 0 | intron-variant | OPTN | GRCh38.p7 | 10:13128536 | GCCAGGCAAACCAAA[-/C]CCAAAAAAAAAAAAA | 10133 |
rs71386160 | in-del | -/A | 0 | 0 | intron-variant | OPTN | GRCh38.p7 | 10:13130454 | TAAGAACAGTGTCTG[-/A]ATTTTTTTTTTTTTT | 10133 |
rs71386161 | in-del | -/T | 0 | 0 | intron-variant | OPTN | GRCh38.p7 | 10:13136529 | CCTATTATTTTAGGA[-/T]TTTTTTTTTTTTTTT | 10133 |
rs71486232 | snp | A/C | 0.5 | 0 | intron-variant | OPTN | GRCh38.p7 | 10:13128539 | AATGCCAGGCAAACC[A/C]AACCCAAAAAAAAAA | 10133 |
rs71492279 | snp | C/T | 0.457737 | 0.139088 | utr-variant-5-prime, upstream-variant-2KB | OPTN, CCDC3 | GRCh38.p7 | 10:13100153 | GCCGCGCATCAGCCC[C/T]AGGCACCCCAGTCCC | 10133 |
rs71492280 | snp | G/T | 0.5 | 0 | intron-variant | OPTN | GRCh38.p7 | 10:13128645 | CCTCCTGGGTTCAGG[G/T]GATTCTCCTGCCTCA | 10133 |
rs71492281 | snp | C/G | 0.5 | 0 | intron-variant | OPTN | GRCh38.p7 | 10:13128687 | AGCTGGGACTACAGG[C/G]ATGTGCCAACATGCC | 10133 |
rs71492282 | snp | A/G | 0.5 | 0 | intron-variant | OPTN | GRCh38.p7 | 10:13128727 | TTTGTATTTTTAGTA[A/G]AGATGGGGTTTCATC | 10133 |
rs71492283 | snp | A/G | 0.5 | 0 | intron-variant | OPTN | GRCh38.p7 | 10:13128729 | TGTATTTTTAGTAGA[A/G]ATGGGGTTTCATCAT | 10133 |
rs71492284 | snp | G/T | 0.5 | 0 | intron-variant | OPTN | GRCh38.p7 | 10:13128780 | ACTCCTGACCTCAGG[G/T]GATCCACCCACTTCC | 10133 |
rs71492285 | snp | A/G | 0.5 | 0 | intron-variant | OPTN | GRCh38.p7 | 10:13128804 | CACTTCCACCTCCCA[A/G]AGTGCTGGGATTACA | 10133 |
rs71492286 | snp | A/G | 0.5 | 0 | intron-variant | OPTN | GRCh38.p7 | 10:13128806 | CTTCCACCTCCCAGA[A/G]TGCTGGGATTACAGG | 10133 |
rs71492287 | snp | C/G | 0.5 | 0 | intron-variant | OPTN | GRCh38.p7 | 10:13128822 | TGCTGGGATTACAGG[C/G]ATGAGCCACTGCGCC | 10133 |
rs71492288 | snp | G/T | 0.5 | 0 | intron-variant | OPTN | GRCh38.p7 | 10:13128966 | TTCTTAGTTTTAAGG[G/T]AGTCCAGTATATCAG | 10133 |
rs71985559 | in-del | -/ACAG/CACA/CACACACACA | | | intron-variant | OPTN | GRCh38.p7 | 10:13103748 | ACACACATGCACACA[-/ACAG/CACA/CACACACACA]CACACACACACACAC | 10133 |
rs72072578 | in-del | -/A | | | intron-variant | OPTN | GRCh38.p7 | 10:13102954 | CTTAATTTAAAAAAA[-/A]AAAAGAAAAAATAAA | 10133 |
rs72511733 | in-del | -/CC | | | intron-variant | OPTN | GRCh38.p7 | 10:13109935 | ATCCTGGTATCTCAA[-/CC]GMTGGCTTTGGGCAG | 10133 |
rs72779566 | snp | G/T | 0.00478085 | 0.0486577 | intron-variant | OPTN | GRCh38.p7 | 10:13117952 | TTAACAATTCTTCAC[G/T]TTTCCCCCAAATTGC | 10133 |
rs73577628 | snp | A/G | 0.0111196 | 0.0737302 | intron-variant | OPTN | GRCh38.p7 | 10:13102985 | TATTTAGGAGGTAGA[A/G]GTGATGGCATTTGGT | 10133 |
rs73577646 | snp | C/T | 0.0123036 | 0.0774623 | intron-variant | OPTN | GRCh38.p7 | 10:13131339 | GGTTGGGTTTATTCA[C/T]TGTGGGAGGGAAACA | 10133 |
rs74119439 | snp | C/T | 0.0119091 | 0.0762411 | intron-variant | OPTN | GRCh38.p7 | 10:13101944 | ATTTCAACCAACATT[C/T]ACTGCAAGCCTGCTA | 10133 |
rs74120669 | snp | A/C | 0.0119091 | 0.0762411 | intron-variant | OPTN | GRCh38.p7 | 10:13104957 | GCCGACGTGCGAGCT[A/C]TGCTACTAATTTATG | 10133 |
rs74120673 | snp | C/G | 0.00199481 | 0.0315187 | intron-variant | OPTN | GRCh38.p7 | 10:13110618 | GTCTTGGAAGAAGTG[C/G]TTTTGCTGAAAAGAT | 10133 |
rs74120675 | snp | C/T | 0.00119737 | 0.0244387 | intron-variant | OPTN | GRCh38.p7 | 10:13116744 | TTCTTTTCCCTGCTA[C/T]TTCCCAGTTATAAGC | 10133 |
rs74120677 | snp | C/T | 0.140242 | 0.224618 | intron-variant | OPTN | GRCh38.p7 | 10:13121447 | GAGATAGTCTTGCTG[C/T]TTCTTTTCCAGTCTG | 10133 |
rs74120680 | snp | A/C | 0.0142736 | 0.0832652 | intron-variant | OPTN | GRCh38.p7 | 10:13127672 | ATTAAAAAAATAAAC[A/C]TTTTTCTAATATTTT | 10133 |
rs74120682 | snp | C/T | 0.140581 | 0.224783 | intron-variant | OPTN | GRCh38.p7 | 10:13128912 | GTCAGTTATTTTTGC[C/T]TTTTCACTCTCATAA | 10133 |
rs74122507 | snp | C/T | 0.0463947 | 0.145069 | intron-variant | OPTN | GRCh38.p7 | 10:13135401 | ATTCCTCCTTGTTAA[C/T]TTTATGTAGATAACT | 10133 |
rs74122509 | snp | C/T | 0.0456336 | 0.143994 | intron-variant | OPTN | GRCh38.p7 | 10:13135833 | TAGTATTTACTAGAA[C/T]ATGCATTGTCCTGTA | 10133 |
rs74122512 | snp | A/G | 0.0166325 | 0.0896639 | downstream-variant-500B | OPTN | GRCh38.p7 | 10:13138362 | CACACACACACTTCA[A/G]TAAGAATCAAAATAG | 10133 |
rs74312395 | in-del | -/AAA | | | intron-variant | OPTN | GRCh38.p7 | 10:13121529 | AAAAAAAAAAAAAGT[-/AAA]GTTACATAGAAATGG | 10133 |
rs74380542 | snp | A/G | 0.5 | 0 | intron-variant | OPTN | GRCh38.p7 | 10:13136326 | CAGTCTGGCCAACAT[A/G]GCAAAACCACATCTC | 10133 |
rs74420236 | snp | C/T | 0.0596104 | 0.162024 | intron-variant | OPTN | GRCh38.p7 | 10:13107885 | AATACATCATTTTCA[C/T]CAAGTGTGAAGGTGG | 10133 |
rs74524542 | snp | A/C | 0.0494327 | 0.149241 | intron-variant | OPTN | GRCh38.p7 | 10:13117058 | TCAAGAGACGATTGT[A/C]TGAAAAGAACTCTAA | 10133 |
rs74729880 | snp | C/G | 0.00438332 | 0.0466095 | intron-variant | OPTN | GRCh38.p7 | 10:13133037 | TGGTGGGTAGCTTCC[C/G]CATCTATTTTATACT | 10133 |
rs74744569 | snp | G/T | 0.5 | 0 | intron-variant | OPTN | GRCh38.p7 | 10:13126299 | TTTTTTTTTTTTTTT[G/T]AGACGGAGTCTCGCT | 10133 |
rs74785802 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | OPTN | GRCh38.p7 | 10:13113344 | AGAACCTTCTTTTCA[A/G]ACAAAGTGGTATGAG | 10133 |
rs74861889 | snp | C/T | 0.030665 | 0.119967 | intron-variant | OPTN | GRCh38.p7 | 10:13112980 | CTCAAAGCTGTATTC[C/T]GCAGTTCACTTAAGG | 10133 |
rs74865547 | snp | C/T | 0.0611083 | 0.163768 | intron-variant | OPTN | GRCh38.p7 | 10:13106791 | AAATGCACACATAGA[C/T]ATCATGACACAGTTA | 10133 |
rs74942731 | snp | C/T | 0 | 0 | intron-variant | OPTN | GRCh38.p7 | 10:13107391 | ACCAAAACAGTCTTT[C/T]TTTTTTTTTTTTTTT | 10133 |
rs75113260 | snp | C/G | 0.0119091 | 0.0762411 | upstream-variant-2KB, intron-variant | OPTN, CCDC3 | GRCh38.p7 | 10:13099015 | CCACCGCGCCTGGCC[C/G]TCCTGCACTGATATA | 10133 |
rs75123470 | snp | A/G | 0.00597247 | 0.0543191 | upstream-variant-2KB | OPTN, CCDC3 | GRCh38.p7 | 10:13099926 | GTCCCTGTTCACCCG[A/G]GTCCCAGCCTCGACC | 10133 |
rs75150141 | snp | A/G | 0.5 | 0 | intron-variant | OPTN | GRCh38.p7 | 10:13109853 | AAAAAAAAAAAAAAA[A/G]GGAAAAAGGAAGAAA | 10133 |
rs75514475 | snp | G/T | 0.5 | 0 | intron-variant | OPTN | GRCh38.p7 | 10:13126298 | CTTTTTTTTTTTTTT[G/T]GAGACGGAGTCTCGC | 10133 |
rs75617318 | snp | G/T | 1.91745e-05 | 0.00309627 | intron-variant | OPTN | GRCh38.p7 | 10:13110514 | ATGTTGTTTTTTTTT[G/T]TTCCCTTGACATTTG | 10133 |
rs75654767 | snp | A/G | 0.0057879 | 0.0534832 | OPTN | 10 | allele_origin=G(germline)/A(germline) | 10:13136766 | AGGACAGGGACTGGC[A/G]GCAACAGCGGAATAT | 10133 |
rs75669336 | snp | C/T | 0.0115144 | 0.0749975 | intron-variant | OPTN | GRCh38.p7 | 10:13135354 | AGTACTACTCCAAAA[C/T]TGGGGGAAATGATAG | 10133 |
rs75671979 | snp | G/T | 0.0532157 | 0.154195 | intron-variant | OPTN | GRCh38.p7 | 10:13119314 | ATTATACAGTCTGTG[G/T]TTTTTTGTGACTGGC | 10133 |
rs75739149 | snp | A/C | 0 | 0 | intron-variant | OPTN | GRCh38.p7 | 10:13130424 | AGCGAGACTCTATCT[A/C]AAAAAAAAAAAAAAA | 10133 |
rs75860863 | snp | A/G | 0.0592355 | 0.161582 | intron-variant | OPTN | GRCh38.p7 | 10:13110658 | TATTAAGGGTCATGG[A/G]TAATCTCTTTTAGAA | 10133 |
rs75897120 | snp | C/T | 0.0356815 | 0.128715 | intron-variant | OPTN | GRCh38.p7 | 10:13119370 | GAGGTTCATCTACAA[C/T]GTAGCATGTATCAGT | 10133 |
rs76016013 | snp | A/T | 0 | 0 | intron-variant | OPTN | GRCh38.p7 | 10:13121505 | GATTATCCTGTAAAA[A/T]AAAAAAAAAAAAAAA | 10133 |
rs76072860 | snp | C/T | 0.030665 | 0.119967 | intron-variant | OPTN | GRCh38.p7 | 10:13116701 | CCAGACCAGCCTGCC[C/T]AGCTTCCATAAGTGA | 10133 |
rs76078537 | snp | A/C | 0 | 0 | intron-variant | OPTN | GRCh38.p7 | 10:13136505 | AGCGAGACTCCGTCT[A/C]AAAAAAAAAAAAAAA | 10133 |
rs76184276 | snp | C/T | 0.0364509 | 0.129988 | intron-variant | OPTN | GRCh38.p7 | 10:13103913 | CCTTCCATCATTAAA[C/T]ATCACTTTTGCCTAG | 10133 |
rs76286404 | in-del | -/TG | | | intron-variant | OPTN | GRCh38.p7 | 10:13104277 | TTTTTTTTTTTTTTG[-/TG]AGACAGGGTCTCACT | 10133 |
rs76421222 | snp | A/G | 0.345037 | 0.231231 | intron-variant | OPTN | GRCh38.p7 | 10:13111965 | CCATTGTCCTGCCTC[A/G]GCCTCCCGAGTAGCT | 10133 |
rs76437107 | snp | A/C | 0.5 | 0 | intron-variant | OPTN | GRCh38.p7 | 10:13120570 | AGTGAGACTCTGTCT[A/C]AAAAAAAAAAAAAAA | 10133 |
rs76440286 | snp | C/G | 0.0314385 | 0.121371 | intron-variant | OPTN | GRCh38.p7 | 10:13119705 | TTCTCCACGTCCATA[C/G]CAACACTTGTTTCTT | 10133 |
rs76441382 | snp | C/T | 0.00953873 | 0.0683987 | intron-variant | OPTN | GRCh38.p7 | 10:13102069 | GTGTTCTTGGGTGCT[C/T]GGAGTAGGGAACAGT | 10133 |
rs76505134 | snp | A/G | 0.0126979 | 0.078662 | intron-variant | OPTN | GRCh38.p7 | 10:13121550 | ATAGAAATGGAGAGA[A/G]CAGGCATCCTTGTCT | 10133 |
rs76647957 | snp | A/C | 0.293807 | 0.246132 | intron-variant | OPTN | GRCh38.p7 | 10:13105022 | CTGGGCTGATCTCAA[A/C]CTCCTGGCCTCAAAT | 10133 |
rs76703280 | snp | C/G | 0.0607341 | 0.163335 | intron-variant | OPTN | GRCh38.p7 | 10:13124406 | AGTTTTCCTGTTACT[C/G]ACTTAAGCTGATGAC | 10133 |
rs76776236 | snp | C/T | 0.097727 | 0.198275 | intron-variant | OPTN | GRCh38.p7 | 10:13110574 | GATCAAAACCTTTCA[C/T]GGTTCAGTCTGGATT | 10133 |
rs76977652 | snp | C/T | 0.5 | 0 | intron-variant | OPTN | GRCh38.p7 | 10:13126282 | TAAGCACTTCGTATT[C/T]CTTTTTTTTTTTTTT | 10133 |
rs77088690 | snp | C/T | 0.00279162 | 0.0372561 | intron-variant | OPTN | GRCh38.p7 | 10:13135335 | TGATTGAGGCTTGAA[C/T]CTCAGTACTACTCCA | 10133 |
rs77158107 | snp | A/C | 0.00755907 | 0.0610114 | intron-variant | OPTN | GRCh38.p7 | 10:13108055 | ATGCAATACCTAAAG[A/C]TATCTTAGTCTTTTC | 10133 |
rs77188146 | snp | A/T | 0.0182019 | 0.0936463 | intron-variant | OPTN | GRCh38.p7 | 10:13120698 | CTCAGTTCTGTTTCA[A/T]TGATCTATGTTTGTC | 10133 |
rs77309802 | snp | A/T | | | intron-variant | OPTN | GRCh38.p7 | 10:13119842 | GACCGTTTGTTTGAT[A/T]TGGAGAAAAGTCTAT | 10133 |
rs77553109 | snp | C/G | | | intron-variant | OPTN | GRCh38.p7 | 10:13119844 | CCGTTTGTTTGATTT[C/G]GAGAAAAGTCTATTC | 10133 |
rs77853566 | snp | A/C | | | intron-variant | OPTN | GRCh38.p7 | 10:13119213 | GAACATTTTTTCCCC[A/C]AAACAGCACTCACTG | 10133 |
rs77873111 | snp | A/G | 0.0482946 | 0.147699 | intron-variant | OPTN | GRCh38.p7 | 10:13132269 | TGCCTGTCCAAAGAC[A/G]TTCCTGATTTGAACT | 10133 |
rs77950231 | snp | A/C | | | intron-variant, upstream-variant-2KB | OPTN, CCDC3 | GRCh38.p7 | 10:13100883 | TCAAAGAAAATGAAA[A/C]CCAGGTTCCGACCTG | 10133 |
rs77966583 | snp | A/T | 0.0217236 | 0.101931 | intron-variant | OPTN | GRCh38.p7 | 10:13120767 | TGTAGTAAGTTTTGA[A/T]ATCAGGAAGTGTATT | 10133 |
rs78092721 | snp | A/G | 0.0115144 | 0.0749975 | intron-variant | OPTN | GRCh38.p7 | 10:13120802 | CGTTTTCATACTTAT[A/G]TGAAGAACCGCCTGA | 10133 |
rs78232693 | in-del | -/TTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTT | | | intron-variant | OPTN | GRCh38.p7 | 10:13117442 | TTTTGAGATGGAGTT[lengthTooLong]CACTCTGCCACTGAG | 10133 |
rs78312493 | snp | G/T | 0.0162398 | 0.0886349 | intron-variant | OPTN | GRCh38.p7 | 10:13103403 | CATACCAGGGCAAGG[G/T]CCTAACCTTATACTA | 10133 |
rs78440597 | snp | A/G | 0.5 | 0 | intron-variant | OPTN | GRCh38.p7 | 10:13117817 | TGACTTACAAAACGT[A/G]AAAAAAATTGTCTTC | 10133 |
rs78648489 | snp | A/C | 0.0260105 | 0.111035 | intron-variant | OPTN | GRCh38.p7 | 10:13130131 | TTTTTGAGCACTTAT[A/C]ATATGTCAGAGACGG | 10133 |
rs78672962 | snp | C/T | 0.45692 | 0.1403 | intron-variant | OPTN | GRCh38.p7 | 10:13104254 | AATTAGTTTTTTTTT[C/T]TTTTTTTTTTTTTTT | 10133 |
rs78718965 | snp | G/T | | | intron-variant | OPTN | GRCh38.p7 | 10:13119845 | CGTTTGTTTGATTTG[G/T]AGAAAAGTCTATTCA | 10133 |
rs78817894 | snp | A/G | 0.111224 | 0.207945 | intron-variant | OPTN | GRCh38.p7 | 10:13114558 | ACACGTTTTGCATGC[A/G]TTTCTTCTGTGAACT | 10133 |
rs78859725 | snp | C/T | 0.0486741 | 0.148216 | intron-variant | OPTN | GRCh38.p7 | 10:13127382 | AAATAACAGTATCAA[C/T]GAGTCACAGCCTTAT | 10133 |
rs79279469 | snp | A/C | 0.0592355 | 0.161582 | upstream-variant-2KB, utr-variant-5-prime | OPTN, CCDC3 | GRCh38.p7 | 10:13098541 | GCAGGCACCCCTTAC[A/C]GGCCCCGGGGGGACC | 10133 |
rs79289690 | snp | C/T | 0.0150606 | 0.0854603 | intron-variant | OPTN | GRCh38.p7 | 10:13103610 | ACCAGACAAGACATT[C/T]TTGCATTGAATATAT | 10133 |
rs79529484 | snp | G/T | 0.356169 | 0.226336 | intron-variant | OPTN | GRCh38.p7 | 10:13110515 | TGTTGTTTTTTTTTT[G/T]TCCCTTGACATTTGC | 10133 |
rs79733653 | snp | A/G | 0.00667739 | 0.0573943 | intron-variant | OPTN | GRCh38.p7 | 10:13119060 | GAAATAGGTTAACTT[A/G]AAATATGTGTTTTTT | 10133 |
rs79820640 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | OPTN | GRCh38.p7 | 10:13103114 | TATATTACTAAAATA[C/T]GAAGTCACAATATCC | 10133 |
rs79823328 | snp | C/T | 0.00835141 | 0.0640778 | intron-variant | OPTN | GRCh38.p7 | 10:13118559 | CTGGAAAGCTTGGCA[C/T]CTTCAGCCACGGCTG | 10133 |
rs79913169 | snp | A/G | 0.00478085 | 0.0486577 | intron-variant | OPTN | GRCh38.p7 | 10:13104079 | TTTCCTCAGTTGAAT[A/G]TAGCTCAAGGTGATG | 10133 |
rs80016577 | snp | A/G | 0.0126979 | 0.078662 | intron-variant | OPTN | GRCh38.p7 | 10:13130545 | AAGTGATAGAAGTGA[A/G]ACTAAATCGAATTTA | 10133 |
rs80263050 | snp | C/G | 0.00597247 | 0.0543191 | intron-variant | OPTN | GRCh38.p7 | 10:13127264 | TGGGATTACAGGTGT[C/G]AGCCATCATGCCCAG | 10133 |
rs80297143 | snp | G/T | 0.5 | 0 | intron-variant | OPTN | GRCh38.p7 | 10:13108558 | CCTTTTTTTTTTTTT[G/T]TGGTTTGAGACGGAG | 10133 |
rs80327830 | snp | C/T | 0.0056227 | 0.0527232 | intron-variant | OPTN | GRCh38.p7 | 10:13118878 | ACCTTTTAACCTTTA[C/T]ACTGAACAGGGCATT | 10133 |
rs111218055 | snp | A/C | | | intron-variant | OPTN | GRCh38.p7 | 10:13115170 | TTTATATATAGATAT[A/C]TCTATATTTTATATA | 10133 |
rs111236882 | snp | A/G | 0.0103295 | 0.0711199 | intron-variant | OPTN | GRCh38.p7 | 10:13129269 | GTCCATATATGCATG[A/G]GTCTGTTTCTGGATT | 10133 |
rs111392121 | snp | A/G | 0.0539704 | 0.155153 | intron-variant | OPTN | GRCh38.p7 | 10:13134590 | GGTGCACGCCACCAC[A/G]CCTGGCTAATTTATT | 10133 |
rs111397758 | snp | A/T | 0.0115144 | 0.0749975 | intron-variant | OPTN | GRCh38.p7 | 10:13127446 | CGGTGTTATCACCTT[A/T]TTTTTAGGAATTCAT | 10133 |
rs111455240 | snp | A/G | 0.5 | 0 | intron-variant | OPTN | GRCh38.p7 | 10:13104942 | GCTGGTGGTAACTAC[A/G]CCGACGTGCGAGCTC | 10133 |
rs111470334 | snp | C/G | | | intron-variant | OPTN | GRCh38.p7 | 10:13128776 | TCAAACTCCTGACCT[C/G]AGGTGATCCACCCAC | 10133 |
rs111484304 | snp | C/T | 0.0283406 | 0.115616 | utr-variant-3-prime | OPTN | GRCh38.p7 | 10:13137135 | ATTACAAAAATTAGC[C/T]GAGCATGGTGGCGCA | 10133 |
rs111501393 | snp | C/T | 0.5 | 0 | intron-variant | OPTN | GRCh38.p7 | 10:13135665 | CAGAGGATTCAAAAG[C/T]GTCTGCTGAACAAAT | 10133 |
rs111504615 | snp | A/G | 0.0115144 | 0.0749975 | intron-variant | OPTN | GRCh38.p7 | 10:13127452 | TATCACCTTTTTTTT[A/G]GGAATTCATTATTTG | 10133 |
rs111520381 | snp | A/C | 0.0923359 | 0.194016 | intron-variant | OPTN | GRCh38.p7 | 10:13108661 | ACGCCATTCTCCTGC[A/C]TCAGCCTCCCGAGTA | 10133 |
rs111553236 | snp | A/G | 0.0166325 | 0.0896639 | intron-variant | OPTN | GRCh38.p7 | 10:13111901 | TGCCCAGGCTGGAGT[A/G]CAGTGGCATAATCTC | 10133 |
rs111591316 | snp | C/T | 0.5 | 0 | intron-variant | OPTN | GRCh38.p7 | 10:13108544 | AATCCTTATTGTACC[C/T]TTTTTTTTTTTTTTT | 10133 |
rs111740272 | snp | A/C | 0.00835141 | 0.0640778 | intron-variant | OPTN | GRCh38.p7 | 10:13109442 | CATTTGGCAAGGCTA[A/C]ATCTGTTCTGATTTT | 10133 |
rs111744244 | in-del | -/CACA/CGCACACA | 0.394721 | 0.203852 | intron-variant | OPTN | GRCh38.p7 | 10:13108910 | GCACACATGCGCGTG[-/CACA/CGCACACA]GCACACACACACACA | 10133 |
rs111761092 | snp | C/T | 0.00138413 | 0.0262707 | intron-variant | OPTN | GRCh38.p7 | 10:13125904 | TATAAGTTTCTATGA[C/T]ATTTTCCCCAGGATT | 10133 |
rs111766197 | snp | A/G | 0.00398564 | 0.0444627 | intron-variant | OPTN | GRCh38.p7 | 10:13128020 | TATATTTTTTCACCC[A/G]TGAGTGTATTAAAAC | 10133 |
rs111852560 | snp | C/G | 0 | 0 | splice-acceptor-variant | OPTN | GRCh38.p7 | 10:13118887 | CCTTTATACTGAACA[C/G]GGCATTGTCTAAATA | 10133 |
rs111943621 | snp | A/G | | | intron-variant | OPTN | GRCh38.p7 | 10:13124113 | GACTTCAAGAAAAGT[A/G]AGAATGAGAGAGCAA | 10133 |
rs111994456 | snp | C/G | 0 | 0 | intron-variant | OPTN | GRCh38.p7 | 10:13105906 | AAAGTGAGACTCTGT[C/G]TGAAAAAAAAAAAAA | 10133 |
rs111998961 | snp | A/C | 0.0923359 | 0.194016 | intron-variant | OPTN | GRCh38.p7 | 10:13108507 | ATGATGTCATACCCT[A/C]GTCTCCCTCCCCCAT | 10133 |
rs112030025 | snp | A/G | 0 | 0 | intron-variant | OPTN | GRCh38.p7 | 10:13131212 | CATGTCATGGCAGCT[A/G]GCTTCCCCCAAAGCA | 10133 |
rs112299126 | snp | A/G | 0.5 | 0 | utr-variant-3-prime | OPTN | GRCh38.p7 | 10:13137152 | AGCATGGTGGCGCAT[A/G]CCTGTAGTCGCAGCT | 10133 |
rs112329849 | snp | A/G | | | splice-donor-variant | OPTN | GRCh38.p7 | 10:13119041 | GGAGGCCAAAGAAAG[A/G]TATGAAATAGGTTAA | 10133 |
rs112367047 | snp | A/G | 0.5 | 0 | intron-variant | OPTN | GRCh38.p7 | 10:13126953 | CACTTGAGCCTAGGA[A/G]GTCAAGGCTGCAGTG | 10133 |
rs112374961 | snp | C/G | 0.5 | 0 | intron-variant | OPTN | GRCh38.p7 | 10:13118436 | GAAAAAGGTTTTCTC[C/G]CCTTGACTTAAGCTG | 10133 |
rs112474214 | snp | C/G | | | intron-variant | OPTN | GRCh38.p7 | 10:13113280 | ATCCACCCGCCTCGG[C/G]CTCCCAAAGTGCTGG | 10133 |
rs112560793 | snp | C/G/T | 0 | 0 | splice-acceptor-variant | OPTN | GRCh38.p7 | 10:13123994 | ATTTCCCGTATGATA[C/G/T]GTTGGAAGCGAAGTG | 10133 |
rs112628075 | snp | A/G | 0.0383715 | 0.133092 | intron-variant, upstream-variant-2KB | OPTN, CCDC3 | GRCh38.p7 | 10:13100457 | GGGCGGCCCTCCCGC[A/G]AGACGGCTGCCCTGG | 10133 |
rs112645037 | in-del | -/A/AA | 0.624199 | 0.102556 | intron-variant | OPTN | GRCh38.p7 | 10:13102947 | ACTGAGTCTTAATTT[-/A/AA]AAAAAAAAAAAGAAA | 10133 |
rs112667786 | snp | C/T | | | intron-variant | OPTN | GRCh38.p7 | 10:13122768 | TGCAACCTCCGCCTC[C/T]CAGGTTCAAGCAGTT | 10133 |
rs112747794 | snp | A/G | 0.5 | 0 | synonymous-codon | OPTN | GRCh38.p7 | 10:13112494 | CAGGGCCGAAGCGGA[A/G]CAGGAAAAGGACCAG | 10133 |
rs112751350 | snp | A/G | 0.5 | 0 | intron-variant | OPTN | GRCh38.p7 | 10:13136640 | TCCCACTACGTGTTG[A/G]ATACGAAGTTGAACT | 10133 |
rs112801155 | snp | A/C/T | 0.00159617 | 0.0282053 | intron-variant | OPTN | GRCh38.p7 | 10:13122664 | CTGTGTCAATTGTAG[A/C/T]GAGATGTATTTCTTT | 10133 |
rs112839141 | snp | C/T | | | intron-variant | OPTN | GRCh38.p7 | 10:13114783 | AATTATATAATTATA[C/T]AATTATATAATTATA | 10133 |
rs112874911 | snp | G/T | 0.00914312 | 0.0669923 | intron-variant | OPTN | GRCh38.p7 | 10:13105196 | TGATGACATTTGAAT[G/T]ACAAAATATTTTTTC | 10133 |
rs112955335 | snp | A/G | | | splice-donor-variant | OPTN | GRCh38.p7 | 10:13109289 | ACCACCAGCTGAAAG[A/G]TGAGCAGGGCTGGCC | 10133 |
rs112962294 | snp | A/C | | | intron-variant | OPTN | GRCh38.p7 | 10:13114852 | ATTATATAATTGTAT[A/C]ATATATTCTACAATT | 10133 |
rs113043812 | snp | A/T | 0.0581099 | 0.160244 | intron-variant | OPTN | GRCh38.p7 | 10:13102731 | GTGGATCACTTGAGA[A/T]CAGGAGTTCAAGACC | 10133 |
rs113074258 | snp | A/G | 0.0275645 | 0.114116 | intron-variant | OPTN | GRCh38.p7 | 10:13126968 | GGTCAAGGCTGCAGT[A/G]AGCTGTGATCACGCC | 10133 |
rs113075323 | snp | G/T | | | splice-donor-variant | OPTN | GRCh38.p7 | 10:13119042 | GAGGCCAAAGAAAGG[G/T]ATGAAATAGGTTAAC | 10133 |
rs113086653 | snp | C/T | 0.210909 | 0.246925 | intron-variant, upstream-variant-2KB | OPTN, CCDC3 | GRCh38.p7 | 10:13101398 | CTAACCTCCACCCCC[C/T]CACCCCCCCACCCAC | 10133 |
rs113137280 | snp | C/T | 0.5 | 0 | intron-variant | OPTN | GRCh38.p7 | 10:13122364 | GAGAAAGTAACTTTT[C/T]TATCTTCTGTGATTT | 10133 |
rs113137393 | snp | C/T | 0.5 | 0 | intron-variant | OPTN | GRCh38.p7 | 10:13104798 | GGTTAGAACATGATG[C/T]TATTCGAGATGTTCA | 10133 |
rs113255221 | snp | A/G | 0.0115144 | 0.0749975 | intron-variant | OPTN | GRCh38.p7 | 10:13120447 | CCGTTGCCTAACCCA[A/G]GGTCACAAAGATTTA | 10133 |
rs113259598 | snp | C/T | 0.5 | 0 | intron-variant | OPTN | GRCh38.p7 | 10:13102251 | AACGTGCCTTGGGTA[C/T]GAGTGTTTTGGTGGC | 10133 |
rs113263831 | snp | C/T | 0.0162398 | 0.0886349 | intron-variant | OPTN | GRCh38.p7 | 10:13117506 | GCTGGAGTGAAGTGG[C/T]GCAATCTCAGCTCAC | 10133 |
rs113266529 | snp | C/T | 0.5 | 0 | intron-variant | OPTN | GRCh38.p7 | 10:13125813 | TGAGAGTAAGAAATG[C/T]TAGTAGGTCGTGGGG | 10133 |
rs113276388 | snp | C/T | 0.0023933 | 0.0345097 | intron-variant | OPTN | GRCh38.p7 | 10:13131999 | GCACTACCTCCTCAT[C/T]GCATAAACACTGTAA | 10133 |
rs113306812 | snp | G/T | 0.00755907 | 0.0610114 | intron-variant | OPTN | GRCh38.p7 | 10:13126241 | ATTGCGTACAAAGAT[G/T]ATGTGAATGTCCTAT | 10133 |
rs113349726 | snp | A/C/T | 3.36389e-05 | 0.00410101 | splice-donor-variant | OPTN | GRCh38.p7 | 10:13110478 | AAAGGTCATCTGAGG[A/C/T]GAGCAGACCGATCCA | 10133 |
rs113365968 | snp | A/G | 0.0205511 | 0.0992634 | intron-variant | OPTN | GRCh38.p7 | 10:13135283 | TTTGTATGGATCCAG[A/G]ACCTAGCTAGGGTCA | 10133 |
rs113414936 | in-del | -/C | 0.0535932 | 0.154675 | intron-variant | OPTN | GRCh38.p7 | 10:13115866 | TCTTTTTTAACTTTA[-/C]CTCAGTGAGTTCTAG | 10133 |
rs113503410 | snp | A/T | 0 | 0 | splice-donor-variant | OPTN | GRCh38.p7 | 10:13133583 | CCTTGTTCAAAGAGG[A/T]GAGTCCCGTGTGATC | 10133 |
rs113518417 | snp | C/T | 0 | 0 | intron-variant | OPTN | GRCh38.p7 | 10:13136368 | CAAAAATTAGCTGGG[C/T]GTGGTGGCGCGCACC | 10133 |
rs113811959 | snp | A/G | 0.00324063 | 0.0401225 | synonymous-codon | OPTN | GRCh38.p7 | 10:13112572 | GGGCATCGTGTCTGA[A/G]CTGCAGCTCAAGCTG | 10133 |
rs113861118 | snp | C/T | 0.281577 | 0.247998 | intron-variant | OPTN | GRCh38.p7 | 10:13126429 | GGGACTACAGGCGCC[C/T]GCCACCGCGCCCGGC | 10133 |
rs113930852 | snp | A/G | 0.00716266 | 0.059414 | intron-variant | OPTN | GRCh38.p7 | 10:13133912 | TTCCTGTGTTCAAAC[A/G]GTTCTCCTTCCACAG | 10133 |
rs113955718 | snp | A/C/T | 0.00462138 | 0.0478487 | synonymous-codon | OPTN | GRCh38.p7 | 10:13112485 | CAGGCTTCCCAGGGC[A/C/T]GAAGCGGAGCAGGAA | 10133 |
rs113983616 | snp | C/T | 0.00119737 | 0.0244387 | intron-variant | OPTN | GRCh38.p7 | 10:13108792 | ACCTCATGATCTGTC[C/T]GCCTCGGCCTCCCAA | 10133 |
rs114119115 | snp | A/G | 0.084728 | 0.187577 | intron-variant | OPTN | GRCh38.p7 | 10:13109715 | TGGTGCACGCCTCTG[A/G]TCCTAGCTACTGGGG | 10133 |
rs114174735 | snp | C/T | 0.111576 | 0.20818 | intron-variant | OPTN | GRCh38.p7 | 10:13115725 | TTATTGGAATATAAA[C/T]GTCTTTCAAATCCTG | 10133 |
rs114201013 | snp | A/G | 0.00716266 | 0.059414 | intron-variant | OPTN | GRCh38.p7 | 10:13135664 | CCAGAGGATTCAAAA[A/G]TGTCTGCTGAACAAA | 10133 |
rs114393376 | snp | A/G | 0.0399052 | 0.1355 | intron-variant | OPTN | GRCh38.p7 | 10:13126838 | TCTGAGACCAGCCTG[A/G]GCAACAGGGAGGCCC | 10133 |
rs114566182 | snp | A/G | 0.00358779 | 0.0422022 | intron-variant | OPTN | GRCh38.p7 | 10:13111793 | GTAGGTGTGGGGGCA[A/G]TTGAGTCTCATGGCC | 10133 |
rs114688663 | snp | G/T | 0.00358779 | 0.0422022 | intron-variant | OPTN | GRCh38.p7 | 10:13125254 | GGGTTCAGAAATATG[G/T]CCAGGTCTAGTGAAG | 10133 |
rs114769804 | snp | G/T | 0.0236746 | 0.106192 | intron-variant, upstream-variant-2KB | OPTN, CCDC3 | GRCh38.p7 | 10:13100666 | CCTCGCCATAAGGAG[G/T]TGGTTACAGACACGC | 10133 |
rs114813135 | snp | C/T | 0.00716266 | 0.059414 | intron-variant | OPTN | GRCh38.p7 | 10:13116817 | TAGCACTCTCAGTCA[C/T]TGTGGGTGTTGCCTG | 10133 |
rs114909448 | snp | C/T | 0.031825 | 0.122064 | intron-variant | OPTN | GRCh38.p7 | 10:13111654 | AGTAAGCTGAGATCG[C/T]GCCATTGCACTCCAA | 10133 |
rs115042393 | snp | A/T | 0.0138799 | 0.0821421 | intron-variant | OPTN | GRCh38.p7 | 10:13133175 | TTACTTTACATAATA[A/T]TATGATTTTGAGCTC | 10133 |
rs115043792 | snp | A/G | 0.00874735 | 0.0655527 | intron-variant | OPTN | GRCh38.p7 | 10:13112971 | AAACTAGGTCTCAAA[A/G]CTGTATTCCGCAGTT | 10133 |
rs115370697 | snp | A/G | 0.0146672 | 0.084371 | intron-variant | OPTN | GRCh38.p7 | 10:13125642 | TACAGATTGGAATTC[A/G]GATTTGAGAATAAAT | 10133 |
rs115372868 | snp | A/G | 0.00318978 | 0.0398085 | intron-variant | OPTN | GRCh38.p7 | 10:13104899 | GCAGGACCGGGAGGC[A/G]AGTCGGCCAGAAAGA | 10133 |
rs115502489 | snp | A/G | 0.00597247 | 0.0543191 | intron-variant | OPTN | GRCh38.p7 | 10:13117815 | AATGACTTACAAAAC[A/G]TGAAAAAAATTGTCT | 10133 |
rs115582280 | snp | C/T | | | intron-variant | OPTN | GRCh38.p7 | 10:13126284 | AGCACTTCGTATTTC[C/T]TTTTTTTTTTTTTTG | 10133 |
rs115734023 | snp | A/G/T | 0.00513344 | 0.050404 | intron-variant | OPTN | GRCh38.p7 | 10:13127950 | AGGCCAGCCCTGACT[A/G/T]TATTCTCGCATTGGA | 10133 |
rs115752913 | snp | A/C | 0.0126979 | 0.078662 | intron-variant | OPTN | GRCh38.p7 | 10:13134807 | CTCAGGTGACCCACC[A/C]ACCCAGGAGAGGTCT | 10133 |
rs115860912 | snp | G/T | 0.00478085 | 0.0486577 | intron-variant | OPTN | GRCh38.p7 | 10:13129840 | TAATGTCAGCAGTTT[G/T]TTATTCCCTACATAC | 10133 |
rs115961919 | snp | C/T | 0.0138799 | 0.0821421 | intron-variant | OPTN | GRCh38.p7 | 10:13106427 | CTGCATTATACCTGT[C/T]TTCTAAGTGAATTTG | 10133 |
rs115977533 | snp | A/G | 0.0126979 | 0.078662 | intron-variant | OPTN | GRCh38.p7 | 10:13124299 | ACTTGTAAGATGGGG[A/G]GTTGGGGACTGGAGA | 10133 |
rs116281687 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | OPTN | GRCh38.p7 | 10:13126230 | TAATGTGCTTTATTG[C/T]GTACAAAGATGATGT | 10133 |
rs116411641 | snp | A/G | 0.0126979 | 0.078662 | intron-variant | OPTN | GRCh38.p7 | 10:13119939 | TTTTACATTCTGGAT[A/G]CAAGACCCTTATTAA | 10133 |
rs116449582 | snp | A/G | 0.0858192 | 0.188533 | intron-variant | OPTN | GRCh38.p7 | 10:13136070 | CACGTGCCTGTAGTC[A/G]CAGCTATTCAGGAGG | 10133 |
rs116450846 | snp | A/G | 0.0134861 | 0.0810011 | intron-variant | OPTN | GRCh38.p7 | 10:13128881 | ACTTCTATGTATACT[A/G]CACATACAAGTCTTT | 10133 |
rs116482974 | snp | C/G | 0.00716266 | 0.059414 | intron-variant | OPTN | GRCh38.p7 | 10:13109743 | GGGATGCTGAGGTTG[C/G]AGGATTGCTTGAGCC | 10133 |
rs116591871 | snp | A/G | 0.0185938 | 0.0946107 | intron-variant | OPTN | GRCh38.p7 | 10:13125106 | CACTACATGAGAAGC[A/G]CCTTAGCTAATTACT | 10133 |
rs116665084 | snp | C/T | 0.0387552 | 0.1337 | intron-variant | OPTN | GRCh38.p7 | 10:13126652 | GGGTAGGAAGGGCCA[C/T]CTGCTCTGGGGAATT | 10133 |
rs116697415 | snp | A/G | 0.0166325 | 0.0896639 | intron-variant | OPTN | GRCh38.p7 | 10:13105522 | ATGCTTATAAAATCC[A/G]GGCAATGTGAGAAGT | 10133 |
rs117027987 | snp | C/T | 0.00716266 | 0.059414 | intron-variant | OPTN | GRCh38.p7 | 10:13122178 | CTTGCCTTTTACCTC[C/T]GTGTGTATTTGTCTG | 10133 |
rs117158412 | snp | C/T | 0.00159617 | 0.0282053 | intron-variant | OPTN | GRCh38.p7 | 10:13121309 | GGTTCTTTGCTGTTG[C/T]GTAAGAATTTTAGGA | 10133 |
rs117594822 | snp | A/G | 0.00199481 | 0.0315187 | intron-variant | OPTN | GRCh38.p7 | 10:13112301 | TTTGTAAAGATGGGG[A/G]TCTTGCTATGTTGCC | 10133 |
rs117693727 | snp | A/C | 0.00716266 | 0.059414 | intron-variant | OPTN | GRCh38.p7 | 10:13109904 | TAGTCCTATATATTA[A/C]CTTATTAAGAGAAAG | 10133 |
rs118141891 | snp | A/G | 0.0494327 | 0.149241 | intron-variant | OPTN | GRCh38.p7 | 10:13136195 | CCATCTGTCAAGAAA[A/G]AAAAGTAAAGAAAAG | 10133 |
rs118161070 | snp | C/T | 0.0023933 | 0.0345097 | intron-variant | OPTN | GRCh38.p7 | 10:13102538 | GGATACAGCAGTGGA[C/T]AAAATAGGCAGAACC | 10133 |
rs138005308 | snp | A/C | 0.00716266 | 0.059414 | intron-variant | OPTN | GRCh38.p7 | 10:13113797 | GTGTAATGGCTCACG[A/C]CTATAATCCCAGCAC | 10133 |
rs138013100 | snp | A/G | | | downstream-variant-500B | OPTN | GRCh38.p7 | 10:13138433 | TCAACAGTAATTTCA[A/G]TTAAACGAGTCCCCT | 10133 |
rs138109050 | snp | G/T | 0.00914312 | 0.0669923 | intron-variant | OPTN | GRCh38.p7 | 10:13109752 | AGGTTGGAGGATTGC[G/T]TGAGCCTGGGAAGTT | 10133 |
rs138262330 | snp | A/G | 0.00517822 | 0.0506191 | intron-variant | OPTN | GRCh38.p7 | 10:13133934 | CTTCCACAGCCTCCC[A/G]AGTGGCTGGAATTAC | 10133 |
rs138350947 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant, upstream-variant-2KB | OPTN, CCDC3 | GRCh38.p7 | 10:13100892 | ATGAAACCCAGGTTC[C/T]GACCTGGCCTCCACC | 10133 |
rs138369463 | snp | C/G | 0.0111196 | 0.0737302 | intron-variant | OPTN | GRCh38.p7 | 10:13134618 | ATTTTAGTAGAGACA[C/G]GGTTTCACCATGTTG | 10133 |
rs138434140 | snp | A/G | 0.00478085 | 0.0486577 | intron-variant | OPTN | GRCh38.p7 | 10:13104884 | ACCAGGGGCCCGACC[A/G]CAGGACCGGGAGGCG | 10133 |
rs138489913 | snp | A/C | 0.000153988 | 0.00877328 | missense | OPTN | GRCh38.p7 | 10:13116274 | TTTCACAGGAAGGAG[A/C]AGCAGAAGGGTCAGT | 10133 |
rs138535325 | snp | A/C | 0.00318978 | 0.0398085 | intron-variant | OPTN | GRCh38.p7 | 10:13111063 | TCAAAGATGATAGTA[A/C]TGACACAACCCAGAA | 10133 |
rs138651798 | snp | A/G | 0.0368353 | 0.130617 | intron-variant | OPTN | GRCh38.p7 | 10:13111952 | TCCCAGGTTCACGCC[A/G]TTGTCCTGCCTCAGC | 10133 |
rs138725910 | snp | A/G | 0.000798403 | 0.0199641 | intron-variant | OPTN | GRCh38.p7 | 10:13113549 | GATGAAGTGGGCTAA[A/G]CGAGGGGGCCCTAAG | 10133 |
rs138820044 | snp | A/G | | | intron-variant | OPTN | GRCh38.p7 | 10:13130107 | TTGCTCATTCATTCA[A/G]TAACTTCTTTTTTGA | 10133 |
rs138992173 | snp | A/G | 0.0115144 | 0.0749975 | intron-variant | OPTN | GRCh38.p7 | 10:13134519 | ATCACTGCAACCTCC[A/G]CCTCCCGGGTTCAAG | 10133 |
rs139047602 | snp | C/G | 0.00835141 | 0.0640778 | intron-variant | OPTN | GRCh38.p7 | 10:13102712 | CTTAGGGAGGCCGAG[C/G]TGGGTGGATCACTTG | 10133 |
rs139244295 | in-del | -/TGT | 0.00739672 | 0.0603626 | intron-variant | OPTN | GRCh38.p7 | 10:13112420 | AGCCTTAGTTTGATC[-/TGT]TGTTCATTCACTTTA | 10133 |
rs139349124 | in-del | -/GTGTG/TGTG | | | intron-variant | OPTN | GRCh38.p7 | 10:13128478 | GAGGTATCCTCTTTT[-/GTGTG/TGTG]GTGAAGTGCCTTATC | 10133 |
rs139523143 | snp | A/C/G | 3.31686e-05 | 0.00407225 | synonymous-codon | OPTN | GRCh38.p7 | 10:13127756 | TCAGTCAGAAAAAGT[A/C/G]GACAGGGCAGTGCTG | 10133 |
rs139580853 | snp | C/T | 0.00716266 | 0.059414 | intron-variant | OPTN | GRCh38.p7 | 10:13131199 | GCTTGGGTGCCCTCA[C/T]GTCATGGCAGCTGGC | 10133 |
rs139844003 | snp | C/T | 0.0414363 | 0.137845 | intron-variant | OPTN | GRCh38.p7 | 10:13102826 | CATGCACCTGTAATC[C/T]CAGCTACTTGGGAGG | 10133 |
rs140071551 | snp | A/G | 0.00199481 | 0.0315187 | intron-variant | OPTN | GRCh38.p7 | 10:13122826 | GGATTACAGGTGCCC[A/G]TCACCACGCCTGGCT | 10133 |
rs140091308 | snp | C/T | 0.0134861 | 0.0810011 | intron-variant | OPTN | GRCh38.p7 | 10:13128264 | TTTTAACAGGTAATG[C/T]CAAACAGTTTTCCAG | 10133 |
rs140128491 | in-del | -/A | | | intron-variant | OPTN | GRCh38.p7 | 10:13113896 | ACCCTGTGTGTACAT[-/A]AAAAAAAAAATACAA | 10133 |
rs140186628 | snp | G/T | 3.29468e-05 | 0.00405861 | utr-variant-3-prime | OPTN | GRCh38.p7 | 10:13136868 | ATTGCATCATTTAAG[G/T]GTTGATGTATCACCT | 10133 |
rs140299051 | snp | C/T | 0.00119737 | 0.0244387 | intron-variant | OPTN | GRCh38.p7 | 10:13109434 | GGATTTAGCATTTGG[C/T]AAGGCTAAATCTGTT | 10133 |
rs140438390 | snp | A/G/T | 0.00317604 | 0.0397238 | intron-variant | OPTN | GRCh38.p7 | 10:13123962 | TGTCAGATGATAATT[A/G/T]TACAGATATGTTTGG | 10133 |
rs140448824 | snp | C/T | 0.029116 | 0.117091 | intron-variant | OPTN | GRCh38.p7 | 10:13104333 | AGCATGATCTTAGCT[C/T]ACTGCAACCTCTGCC | 10133 |
rs140599944 | snp | A/G/T | 0.00021425 | 0.0103481 | missense, stop-gained | OPTN | GRCh38.p7 | 10:13112486 | AGGCTTCCCAGGGCC[A/G/T]AAGCGGAGCAGGAAA | 10133 |
rs140654672 | snp | A/G/T | 0.0023933 | 0.0345097 | intron-variant | OPTN | GRCh38.p7 | 10:13102252 | ACGTGCCTTGGGTAC[A/G/T]AGTGTTTTGGTGGCA | 10133 |
rs140774706 | snp | C/T | 0.00597247 | 0.0543191 | intron-variant | OPTN | GRCh38.p7 | 10:13133773 | GACCAGACCCTTCAC[C/T]CTGCCAGAAGGTGCC | 10133 |
rs140811177 | snp | C/T | 0.00716266 | 0.059414 | intron-variant | OPTN | GRCh38.p7 | 10:13113315 | ACAGGCGTGAGCCAC[C/T]GCGCCTGGCCAACAG | 10133 |
rs140878438 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | OPTN | GRCh38.p7 | 10:13128945 | GTGTCATTTGAGGAA[C/T]AAAAGTTCTTAGTTT | 10133 |
rs140982964 | snp | C/T | 0.00199481 | 0.0315187 | intron-variant | OPTN | GRCh38.p7 | 10:13116680 | GGTTCCCCGGTGCCA[C/T]TTGACCCAGACCAGC | 10133 |
rs141264952 | snp | C/G | 0.000399281 | 0.0141238 | intron-variant | OPTN | GRCh38.p7 | 10:13129249 | CCCTCTTCATCATAA[C/G]TTGTGTCCATATATG | 10133 |
rs141335685 | snp | A/G | 3.29538e-05 | 0.00405904 | missense | OPTN | GRCh38.p7 | 10:13133531 | AGATGCAGAGTCGTC[A/G]TGGGGCGAGAACAAG | 10133 |
rs141463405 | snp | A/C/G | 0.00835444 | 0.0641245 | intron-variant | OPTN | GRCh38.p7 | 10:13103241 | GTTAGAATCTTACCC[A/C/G]CCTTGTGAACCCAAA | 10133 |
rs141538707 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | OPTN | GRCh38.p7 | 10:13113707 | AGATAGACAAGGATA[A/G]AATCCTCTGTAGTAT | 10133 |
rs141633940 | snp | C/G | 0.00835141 | 0.0640778 | intron-variant | OPTN | GRCh38.p7 | 10:13106218 | CTTTTAGGTCTATTA[C/G]CTAGAATTTTAGTAT | 10133 |
rs141881593 | snp | A/G | 0.0115144 | 0.0749975 | intron-variant | OPTN | GRCh38.p7 | 10:13134876 | GGTCTCATTTATTCA[A/G]CAGATACTTTTGAGT | 10133 |
rs141968786 | snp | A/G | 0.0119091 | 0.0762411 | intron-variant | OPTN | GRCh38.p7 | 10:13134574 | AGTAGCTAGGACTAC[A/G]GGTGCACGCCACCAC | 10133 |
rs141992587 | snp | A/T | 0.00318978 | 0.0398085 | intron-variant | OPTN | GRCh38.p7 | 10:13130004 | CCTTGCTTGGGTAAC[A/T]CATGTCATTGGGTTC | 10133 |
rs142044655 | in-del | -/AAAACCCCC | | | intron-variant | OPTN | GRCh38.p7 | 10:13122505 | AGTCCTAAGATTCCA[-/AAAACCCCC]CGGCCACTACCACAC | 10133 |
rs142120605 | snp | G/T | 0.000798403 | 0.0199641 | | | GRCh38.p7 | 10:13138783 | CGTAGTCAGTTTAAA[G/T]TAAGGCTGTTGTTTC | 10133 |
rs142212518 | snp | A/G | 3.2981e-05 | 0.00406071 | intron-variant | OPTN | GRCh38.p7 | 10:13132023 | ACTGTAAGAATCTGC[A/G]TTCATCTAGGTACTA | 10133 |
rs142282480 | snp | C/G/T | 3.30482e-05 | 0.00406487 | missense | OPTN | GRCh38.p7 | 10:13112460 | ATCTCCAGGACCCCA[C/G/T]TGATGACTCCAGGCT | 10133 |
rs142427015 | snp | G/T | 0.000399281 | 0.0141238 | intron-variant | OPTN | GRCh38.p7 | 10:13111598 | AGCTACTTGGGAGGC[G/T]AAGGCAGGAGAATTG | 10133 |
rs142468336 | snp | C/T | 0.0193772 | 0.0965046 | intron-variant | OPTN | GRCh38.p7 | 10:13108850 | CACGCCCGGCCCTCA[C/T]TGTACCCTTTTATAC | 10133 |
rs142532459 | snp | A/C | 0.00478085 | 0.0486577 | intron-variant | OPTN | GRCh38.p7 | 10:13111617 | GCAGGAGAATTGCTT[A/C]AACCCGAGAGGTGGA | 10133 |
rs142592799 | snp | C/T | 0.00953873 | 0.0683987 | intron-variant | OPTN | GRCh38.p7 | 10:13128834 | AGGCATGAGCCACTG[C/T]GCCTGGCCTGGCTTT | 10133 |
rs142745644 | snp | A/G | 0.00159617 | 0.0282053 | intron-variant | OPTN | GRCh38.p7 | 10:13122193 | TGTGTGTATTTGTCT[A/G]TGAATCAATTCTAGC | 10133 |
rs142812715 | snp | A/T | 0.00026767 | 0.0115656 | missense | OPTN | GRCh38.p7 | 10:13124053 | TGTTTAAGGAGCTTC[A/T]AGAGGCTCATACAAA | 10133 |
rs142853913 | snp | C/T | 0.0482946 | 0.147699 | intron-variant | OPTN | GRCh38.p7 | 10:13136259 | TCATGCCAGTAATCC[C/T]AGCACTTTGGGAGGC | 10133 |
rs142867383 | snp | A/C | 0.000399281 | 0.0141238 | intron-variant | OPTN | GRCh38.p7 | 10:13102393 | CTCATATTGCAAAAG[A/C]AACCATGAGGGCAAG | 10133 |
rs142934673 | in-del | -/ACAG | 0.443732 | 0.158012 | intron-variant | OPTN | GRCh38.p7 | 10:13103747 | CACACACATGCACAC[-/ACAG]ACACACACACACACA | 10133 |
rs143006801 | snp | A/G | 0.00159617 | 0.0282053 | intron-variant | OPTN | GRCh38.p7 | 10:13125687 | TTTTCACTTATCTGA[A/G]GGAGTCCTAGCAGAC | 10133 |
rs143181748 | snp | A/G | 0.0023933 | 0.0345097 | intron-variant | OPTN | GRCh38.p7 | 10:13127432 | TGTATCCCTGATTTC[A/G]GTGTTATCACCTTTT | 10133 |
rs143254205 | snp | C/T | 0.0146672 | 0.084371 | intron-variant | OPTN | GRCh38.p7 | 10:13107356 | CTCCAGCCTGGGCAA[C/T]AGAGAGAGACTCTCA | 10133 |
rs143294244 | snp | C/T | 0.000798403 | 0.0199641 | intron-variant | OPTN | GRCh38.p7 | 10:13121886 | CCCATTATCTTTAAC[C/T]ACAGTCTCTTGTTTC | 10133 |
rs143402209 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | OPTN | GRCh38.p7 | 10:13103672 | AATCAGATGTATGCT[C/T]GTGTTTACAAGGTCA | 10133 |
rs143425213 | snp | A/G | 0.00279162 | 0.0372561 | intron-variant | OPTN | GRCh38.p7 | 10:13123091 | AAAGGAATGTTGTCC[A/G]CTTTATAATGAGATC | 10133 |
rs143437860 | snp | A/G | 0.000332099 | 0.0128817 | synonymous-codon | OPTN | GRCh38.p7 | 10:13116320 | TAGTCCTGGGCCCAC[A/G]AGAACAGTCTCCACT | 10133 |
rs143575465 | snp | C/T | 0.00358779 | 0.0422022 | intron-variant | OPTN | GRCh38.p7 | 10:13112760 | CCAGTGTAGCAAAGA[C/T]AAATTGGCTCTCATT | 10133 |
rs143642543 | snp | C/T | 0.0023933 | 0.0345097 | intron-variant, upstream-variant-2KB | OPTN, CCDC3 | GRCh38.p7 | 10:13101049 | TGCAGGCTGTGTGAA[C/T]AGAAGAACCCACCTT | 10133 |
rs143650565 | in-del | -/CCCCCC | | | intron-variant | OPTN | GRCh38.p7 | 10:13123504 | CTAAAACGAATTCAA[-/CCCCCC]CAGCCAGTAGCAGGG | 10133 |
rs143676855 | snp | A/G | 0.000798403 | 0.0199641 | intron-variant | OPTN | GRCh38.p7 | 10:13128316 | TCCCATCAACAGAGA[A/G]TTTCCATGGCTCTAC | 10133 |
rs143722556 | snp | A/G | | | intron-variant, upstream-variant-2KB | OPTN, CCDC3 | GRCh38.p7 | 10:13100787 | TACACTCTATATAGA[A/G]AGAATATTTGATGAG | 10133 |
rs143727251 | snp | C/G | 3.30082e-05 | 0.00406239 | missense | OPTN | GRCh38.p7 | 10:13122472 | AGAGAATGATGAAGA[C/G]AAAGGCCCGGAGACT | 10133 |
rs143757843 | snp | A/G | 0.000798403 | 0.0199641 | intron-variant | OPTN | GRCh38.p7 | 10:13129690 | CTCAGTTAAATAAAT[A/G]TTACCAAGCTGTCTT | 10133 |
rs143910840 | snp | C/G | 0.0023933 | 0.0345097 | intron-variant | OPTN | GRCh38.p7 | 10:13104885 | CCAGGGGCCCGACCG[C/G]AGGACCGGGAGGCGA | 10133 |
rs143964908 | snp | A/T | 0.000399281 | 0.0141238 | intron-variant | OPTN | GRCh38.p7 | 10:13115890 | GTTCTAGCATTTTGC[A/T]TTTTAAAGGAAGGAT | 10133 |
rs144004388 | snp | A/G | | | intron-variant | OPTN | GRCh38.p7 | 10:13120534 | TTACAGTTGGCCACC[A/G]CACTCCAGCCTGGGT | 10133 |
rs144036409 | snp | C/T | 0.00358779 | 0.0422022 | intron-variant | OPTN | GRCh38.p7 | 10:13131303 | ACACCATCACTTCTG[C/T]GGCATCCTGGAGGTT | 10133 |
rs144089084 | in-del | -/TCTGTTCT | 0.0360663 | 0.129354 | intron-variant | OPTN | GRCh38.p7 | 10:13136672 | TGTTAAAACTCGCCA[-/TCTGTTCT]TCTGTTCTTCAAGTG | 10133 |
rs144444312 | snp | C/T | 0.0452528 | 0.143452 | intron-variant | OPTN | GRCh38.p7 | 10:13102834 | TGTAATCCCAGCTAC[C/T]TGGGAGGCTGAGGTG | 10133 |
rs144466778 | snp | G/T | 0.000263774 | 0.0114812 | missense | OPTN | GRCh38.p7 | 10:13127898 | ATGACCATCCTCAGG[G/T]CTCAGGTGAGGCACC | 10133 |
rs144561412 | snp | A/G | 8.23866e-05 | 0.00641767 | synonymous-codon | OPTN | GRCh38.p7 | 10:13112491 | TCCCAGGGCCGAAGC[A/G]GAGCAGGAAAAGGAC | 10133 |
rs144640313 | snp | A/C/T | 6.59048e-05 | 0.00574009 | missense, synonymous-codon | OPTN | GRCh38.p7 | 10:13112573 | GGCATCGTGTCTGAA[A/C/T]TGCAGCTCAAGCTGA | 10133 |
rs144660586 | snp | A/G | 0.000798403 | 0.0199641 | intron-variant | OPTN | GRCh38.p7 | 10:13117007 | GGAGACTGCTAGCTC[A/G]CCTTCTGCAAGCTGC | 10133 |
rs144732797 | snp | G/T | 0.00358779 | 0.0422022 | intron-variant | OPTN | GRCh38.p7 | 10:13118062 | TCATTCATATCCAGA[G/T]GCAAAGACCGCTTCC | 10133 |
rs144805993 | snp | C/G | 0.00716266 | 0.059414 | intron-variant | OPTN | GRCh38.p7 | 10:13114060 | TGACAGAGCAAGACT[C/G]TGTCTTTAAATTTAA | 10133 |
rs144821242 | snp | G/T | 0.0209421 | 0.100162 | intron-variant | OPTN | GRCh38.p7 | 10:13121911 | TGTTTCATTTGGATT[G/T]GGACGGCTTTCCTGT | 10133 |
rs144948410 | snp | C/G | 0.000399281 | 0.0141238 | intron-variant | OPTN | GRCh38.p7 | 10:13102769 | CCAACGTGGCAAAAC[C/G]CTGTCTCTACTAAAA | 10133 |
rs144984770 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | OPTN | GRCh38.p7 | 10:13133208 | TTGATATGTGCGGAT[A/G]TAATTTATTATACTT | 10133 |
rs145066345 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | OPTN | GRCh38.p7 | 10:13124378 | TAAGATCTCTACAGT[A/G]AAGCTGTGAGCTAGT | 10133 |
rs145075721 | snp | C/T | 0.0023933 | 0.0345097 | intron-variant | OPTN | GRCh38.p7 | 10:13136585 | TTTCTCTATGTGCAT[C/T]GTGATGACTTCAGTT | 10133 |
rs145112217 | in-del | -/GCGC | 0.136506 | 0.222754 | intron-variant | OPTN | GRCh38.p7 | 10:13108903 | CACACATGCACACAT[-/GCGC]GCGCGTGCACACACA | 10133 |
rs145172964 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | OPTN | GRCh38.p7 | 10:13134291 | GACCTCTTACCCCAT[C/T]TTTAAAATCTATTTC | 10133 |
rs145272333 | snp | C/T | 0.00358779 | 0.0422022 | intron-variant | OPTN | GRCh38.p7 | 10:13118594 | TGCTGAACTGTTCCG[C/T]GAGTTTTGTGGTGTG | 10133 |
rs145746275 | snp | A/G | 0.00953873 | 0.0683987 | upstream-variant-2KB, utr-variant-5-prime | OPTN, CCDC3 | GRCh38.p7 | 10:13098548 | CCCCTTACAGGCCCC[A/G]GGGGGACCCTTTTCT | 10133 |
rs145871824 | snp | A/G | 0.0422008 | 0.138995 | intron-variant | OPTN | GRCh38.p7 | 10:13107661 | GCTGGGATTAGAGGC[A/G]TGAGCCACCGCGCCC | 10133 |
rs145936809 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | OPTN | GRCh38.p7 | 10:13106850 | TCTATCTTCCAGGGA[C/T]TGATATCATGTGTAA | 10133 |
rs145950014 | snp | C/T | 0.000798403 | 0.0199641 | intron-variant | OPTN | GRCh38.p7 | 10:13111007 | ACATTTTTCTTAACC[C/T]AAAGAACCTGGAAAA | 10133 |
rs146008055 | snp | C/T | 0.00358779 | 0.0422022 | intron-variant | OPTN | GRCh38.p7 | 10:13104903 | GACCGGGAGGCGAGT[C/T]GGCCAGAAAGAGGTG | 10133 |
rs146179691 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | OPTN | GRCh38.p7 | 10:13113774 | ATACAGGAAAAGGGA[C/T]TGGCCGGGTGTAATG | 10133 |
rs146321431 | snp | C/T | 0.00676609 | 0.0577691 | intron-variant | OPTN | GRCh38.p7 | 10:13128365 | TTATCAGTCATTTTC[C/T]TTTAACCACTCTGGA | 10133 |
rs146334646 | snp | C/T | 0.00398564 | 0.0444627 | intron-variant | OPTN | GRCh38.p7 | 10:13130986 | GTGCAGTCGCATGAT[C/T]GTGGTTCACTGCAAC | 10133 |
rs146593599 | snp | C/T | 1.6476e-05 | 0.00287014 | synonymous-codon | OPTN | GRCh38.p7 | 10:13112563 | AGACCTGTTGGGCAT[C/T]GTGTCTGAACTGCAG | 10133 |
rs146638443 | snp | A/G | 0.00478085 | 0.0486577 | upstream-variant-2KB, utr-variant-5-prime | OPTN, CCDC3 | GRCh38.p7 | 10:13098567 | GGACCCTTTTCTGCC[A/G]ATCCCAGGGTACAGC | 10133 |
rs146640606 | snp | A/G | 1.64741e-05 | 0.00286998 | missense | OPTN | GRCh38.p7 | 10:13132172 | GTTCTGCTGAAAGAG[A/G]ATGATGCTTTCGAAG | 10133 |
rs146718825 | snp | G/T | 0.00636936 | 0.0560724 | intron-variant | OPTN | GRCh38.p7 | 10:13123314 | GTTGATAGCCATAGG[G/T]GCCCACGTGAAAGGC | 10133 |
rs146751784 | in-del | -/TT | | | intron-variant | OPTN | GRCh38.p7 | 10:13104426 | TTTTTTTTTTTTTTT[-/TT]ACTATTACAAAATTT | 10133 |
rs146768083 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | OPTN | GRCh38.p7 | 10:13118418 | TTATTTGAAACCACA[A/G]GTGAAAAAGGTTTTC | 10133 |
rs146906502 | in-del | -/T | 0.0126979 | 0.078662 | intron-variant | OPTN | GRCh38.p7 | 10:13124423 | CTTAAGCTGATGACA[-/T]TGATGTGAGTAAGCA | 10133 |
rs147190988 | snp | A/G | 0.000798403 | 0.0199641 | intron-variant | OPTN | GRCh38.p7 | 10:13101996 | TAACATGGAGAGAAA[A/G]TAGACGGGCAGACGA | 10133 |
rs147219443 | snp | A/G | 1.65119e-05 | 0.00287327 | missense | OPTN | GRCh38.p7 | 10:13122476 | AATGATGAAGAGAAA[A/G]GCCCGGAGACTGTGA | 10133 |
rs147274458 | snp | A/G | 1.65817e-05 | 0.00287933 | missense | OPTN | GRCh38.p7 | 10:13110373 | AGTTTTTTGAGATAC[A/G]GAGCAAAGAAGCAAA | 10133 |
rs147327149 | snp | C/T | 0.00478085 | 0.0486577 | intron-variant | OPTN | GRCh38.p7 | 10:13116672 | TGCTCATTGGTTCCC[C/T]GGTGCCATTTGACCC | 10133 |
rs147433660 | snp | A/G | 0.00478085 | 0.0486577 | intron-variant | OPTN | GRCh38.p7 | 10:13136410 | CTACTCAGGAGGCCA[A/G]AGCAGGAGGATCACT | 10133 |
rs147661029 | snp | C/T | 0.0138799 | 0.0821421 | intron-variant | OPTN | GRCh38.p7 | 10:13108781 | TCAATCTCCTGACCT[C/T]ATGATCTGTCCGCCT | 10133 |
rs147765887 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | OPTN | GRCh38.p7 | 10:13129134 | GAAATTGGCTTTTGT[C/T]TATAGAAAATGAGGT | 10133 |
rs147841370 | snp | A/T | 0.00398564 | 0.0444627 | intron-variant | OPTN | GRCh38.p7 | 10:13132737 | GTCACGGATGAAATA[A/T]TCGTAGCACTTTAAA | 10133 |
rs147991854 | snp | A/G | 1.65108e-05 | 0.00287317 | synonymous-codon | OPTN | GRCh38.p7 | 10:13119020 | GAGACTTGAAGTTGC[A/G]CTCAAGGAGGCCAAA | 10133 |
rs148030013 | snp | A/G | 0.0189856 | 0.0955633 | intron-variant | OPTN | GRCh38.p7 | 10:13113306 | GCTGGGATGACAGGC[A/G]TGAGCCACCGCGCCT | 10133 |
rs148179091 | snp | C/T | 0.00755907 | 0.0610114 | intron-variant | OPTN | GRCh38.p7 | 10:13129738 | AAATTATACTCTCAC[C/T]AAAAGATAAGCACTC | 10133 |
rs148231299 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | OPTN | GRCh38.p7 | 10:13126277 | GGGATTAAGCACTTC[A/G]TATTTCTTTTTTTTT | 10133 |
rs148385296 | in-del | -/GACA | 0 | 0 | intron-variant | OPTN | GRCh38.p7 | 10:13103750 | ACACATGCACACACA[-/GACA]CACACACACACACAC | 10133 |
rs148469216 | snp | A/C | 0.0166325 | 0.0896639 | intron-variant | OPTN | GRCh38.p7 | 10:13105855 | CAGAGGTTGCAGTGA[A/C]CTGAGATTGTGCCAC | 10133 |
rs148513632 | snp | A/G | 0.0023933 | 0.0345097 | intron-variant | OPTN | GRCh38.p7 | 10:13122055 | TATGAATGAGATACC[A/G]TGTTCATGGAACACA | 10133 |
rs148564641 | snp | C/T | 0.000798403 | 0.0199641 | intron-variant | OPTN | GRCh38.p7 | 10:13114127 | GAGAAAAATGTACAT[C/T]GTAGATAAGTCAGGA | 10133 |
rs148646641 | snp | G/T | 0.00438332 | 0.0466095 | utr-variant-3-prime | OPTN | GRCh38.p7 | 10:13137428 | ATAATTTTAATATTT[G/T]TTATGTTTGGTTGAT | 10133 |
rs148857878 | snp | G/T | 3.31356e-05 | 0.00407022 | synonymous-codon | OPTN | GRCh38.p7 | 10:13116284 | AGGAGAAGCAGAAGG[G/T]TCAGTAAAAGAAATC | 10133 |
rs148952821 | snp | C/T | 0.000282146 | 0.0118741 | intron-variant | OPTN | GRCh38.p7 | 10:13112656 | TTTTTGGTTTTATTT[C/T]TGTTTTGAGCAAACT | 10133 |
rs148983149 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | OPTN | GRCh38.p7 | 10:13129621 | TTACGGGCGTGAGCC[A/G]CCGTGCCTGGCCAGC | 10133 |
rs149005252 | snp | A/G | 0.00914312 | 0.0669923 | utr-variant-5-prime, intron-variant | OPTN | GRCh38.p7 | 10:13108283 | TGGTGTGCTGAGTCC[A/G]CACATAGTAAGCATT | 10133 |
rs149181730 | snp | G/T | 0.000798403 | 0.0199641 | intron-variant | OPTN | GRCh38.p7 | 10:13134184 | ATCATCCCCTTGAAC[G/T]TGTCCTAAGCTTGTA | 10133 |
rs149288163 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | OPTN | GRCh38.p7 | 10:13105021 | GCTGGGCTGATCTCA[A/G]ACTCCTGGCCTCAAA | 10133 |
rs149477488 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | OPTN | GRCh38.p7 | 10:13113948 | CACACACCTGTACTC[C/T]CAGCTACTCAGGAGG | 10133 |
rs149535700 | snp | C/T | 0.00119737 | 0.0244387 | intron-variant | OPTN | GRCh38.p7 | 10:13110929 | CTTTTTAAAAATGCT[C/T]TGGAAAATGTCATGT | 10133 |
rs149572820 | snp | C/T | 0.000798403 | 0.0199641 | intron-variant | OPTN | GRCh38.p7 | 10:13127506 | TTCTGAATAAGTTAG[C/T]GTTGCTGATTAATAG | 10133 |
rs149678988 | snp | A/T | 0.00597247 | 0.0543191 | intron-variant | OPTN | GRCh38.p7 | 10:13129102 | TTACCTTTTACATTA[A/T]GATGTACAAACCATT | 10133 |
rs149806984 | snp | A/C/G | 4.94754e-05 | 0.0049735 | synonymous-codon | OPTN | GRCh38.p7 | 10:13125526 | AGTGGAAAGCATGCT[A/C/G]TCAGAAATCAAAATG | 10133 |
rs149942326 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | OPTN | GRCh38.p7 | 10:13131259 | GCAAGGAGTGACAGC[A/G]TCTTTTGTGACCTAG | 10133 |
rs150120537 | snp | G/T | 0.000399281 | 0.0141238 | intron-variant | OPTN | GRCh38.p7 | 10:13119892 | TTAAAAATTGGGTTA[G/T]TTGTCTTTTTATGTT | 10133 |
rs150339038 | snp | C/T | 0.0425829 | 0.139564 | intron-variant | OPTN | GRCh38.p7 | 10:13109629 | ACAGGAGTTCAAGAC[C/T]AGCCTGGGCAAGATG | 10133 |
rs150381274 | snp | C/T | 0.00301557 | 0.038713 | synonymous-codon | OPTN | GRCh38.p7 | 10:13124075 | TCATACAAAACTCAG[C/T]AAAGCTGAGCTAATG | 10133 |
rs150392555 | snp | A/G | 0.00953873 | 0.0683987 | intron-variant | OPTN | GRCh38.p7 | 10:13104880 | GGTGACCAGGGGCCC[A/G]ACCGCAGGACCGGGA | 10133 |
rs150521165 | in-del | -/CT | 0.0126979 | 0.078662 | intron-variant | OPTN | GRCh38.p7 | 10:13118319 | TGATTCTGTTTGTCA[-/CT]GATATGTCTCTTGAT | 10133 |
rs150623311 | snp | C/T | 0.000798403 | 0.0199641 | intron-variant | OPTN | GRCh38.p7 | 10:13130093 | CTTGATGGATACTCT[C/T]GCTCATTCATTCAAT | 10133 |
rs150727238 | snp | A/G | 0.0197687 | 0.0974348 | intron-variant | OPTN | GRCh38.p7 | 10:13102685 | TGGTGGCTCATGCCT[A/G]TAATCCCAGCACTTA | 10133 |
rs150877858 | snp | C/G | 0.0383715 | 0.133092 | intron-variant | OPTN | GRCh38.p7 | 10:13111955 | CAGGTTCACGCCATT[C/G]TCCTGCCTCAGCCTC | 10133 |
rs151012985 | snp | A/G | 0.0115144 | 0.0749975 | intron-variant | OPTN | GRCh38.p7 | 10:13128932 | CACTCTCATAAAGGT[A/G]TCATTTGAGGAACAA | 10133 |
rs151065414 | snp | A/G | 0.000892164 | 0.0211018 | synonymous-codon | OPTN | GRCh38.p7 | 10:13122481 | TGAAGAGAAAGGCCC[A/G]GAGACTGTGAGTCCT | 10133 |
rs151309275 | snp | C/T | 1.64739e-05 | 0.00286996 | missense | OPTN | GRCh38.p7 | 10:13136826 | AGGTTCTGCCTGACA[C/T]AGACACGTTACAGAT | 10133 |
rs151319164 | snp | C/T | 0.00755907 | 0.0610114 | intron-variant | OPTN | GRCh38.p7 | 10:13103792 | TTGAGATAGCAGATC[C/T]GGGAATAAAATCTAG | 10133 |
rs180815207 | snp | A/C | | | intron-variant | OPTN | GRCh38.p7 | 10:13114440 | TAAGCTGCAGGAAAC[A/C]CAACAGCATATGAGA | 10133 |
rs180820586 | snp | C/G/T | 0.00358891 | 0.0422285 | intron-variant | OPTN | GRCh38.p7 | 10:13121026 | ACTCACTCACTATCA[C/G/T]GAGAACAGCATGGAG | 10133 |
rs180823580 | snp | C/T | 0.00557542 | 0.0525036 | upstream-variant-2KB, intron-variant | OPTN, CCDC3 | GRCh38.p7 | 10:13098941 | AGGCTGGTCTCGAAC[C/T]CCGGACCTTGCGATC | 10133 |
rs180849636 | snp | A/G | 0.00636936 | 0.0560724 | intron-variant | OPTN | GRCh38.p7 | 10:13130984 | GAGTGCAGTCGCATG[A/G]TCGTGGTTCACTGCA | 10133 |
rs180890126 | snp | C/T | | | intron-variant | OPTN | GRCh38.p7 | 10:13106477 | CAAAAAGTTCAAAAA[C/T]GAATCCTATGGTTTA | 10133 |
rs180939832 | snp | C/T | | | intron-variant | OPTN | GRCh38.p7 | 10:13134028 | TGGCCAGGCTGGTCT[C/T]GAACTCCTGACCTCA | 10133 |
rs180951242 | snp | G/T | 0.000399281 | 0.0141238 | intron-variant | OPTN | GRCh38.p7 | 10:13102716 | GGGAGGCCGAGGTGG[G/T]TGGATCACTTGAGAT | 10133 |
rs180955172 | snp | A/G | 0.000798403 | 0.0199641 | intron-variant | OPTN | GRCh38.p7 | 10:13111081 | ACACAACCCAGAACA[A/G]GTTTGAAATCCCCAC | 10133 |
rs180958598 | snp | A/G | 0.0130921 | 0.0798413 | intron-variant | OPTN | GRCh38.p7 | 10:13115610 | ATATATTTATATAAT[A/G]TATATTTCTATATCT | 10133 |
rs181054280 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | OPTN | GRCh38.p7 | 10:13134950 | GAGCAAAGGCAGCCC[C/T]GGATGCTGACCCCTC | 10133 |
rs181131178 | snp | A/C/T | 0.000264133 | 0.0114891 | synonymous-codon | OPTN | GRCh38.p7 | 10:13125457 | TTCTGCAATTCCATC[A/C/T]GAGTTGAATGAAAAG | 10133 |
rs181136161 | snp | G/T | 0.00318978 | 0.0398085 | intron-variant | OPTN | GRCh38.p7 | 10:13102966 | AAAAAAAAGAAAAAA[G/T]AAATATTTAGGAGGT | 10133 |
rs181141625 | snp | C/T | 6.6335e-05 | 0.00575874 | missense | OPTN | GRCh38.p7 | 10:13110393 | AAAGAAGCAAAAGAG[C/T]GTCTAATGGCCTTGA | 10133 |
rs181574938 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | OPTN | GRCh38.p7 | 10:13125766 | TGCTGATTGTTTGCA[C/T]TCTGTCTTGATTTTT | 10133 |
rs181586435 | snp | A/G | 0.00358779 | 0.0422022 | intron-variant | OPTN | GRCh38.p7 | 10:13110672 | GATAATCTCTTTTAG[A/G]AGAAAGAAATTTGTA | 10133 |
rs181693417 | snp | A/G | 0.00119737 | 0.0244387 | intron-variant | OPTN | GRCh38.p7 | 10:13129783 | TCTTGCATTATTTTA[A/G]AAACCTTGGCCAATC | 10133 |
rs181706359 | snp | C/G | 0.000399281 | 0.0141238 | intron-variant | OPTN | GRCh38.p7 | 10:13113405 | AGAAAAGAAAGAGCA[C/G]AACTGCTCTGGTTGT | 10133 |
rs181825817 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | OPTN | GRCh38.p7 | 10:13106952 | GTGCCTTTCCCCCGT[C/T]AGAAATGGGATGCTC | 10133 |
rs181957390 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | OPTN | GRCh38.p7 | 10:13130396 | TGCCACTGCACTCCA[A/G]CCTGGGCGACAGAGC | 10133 |
rs181965252 | snp | C/T | 0.00358779 | 0.0422022 | upstream-variant-2KB, intron-variant | OPTN, CCDC3 | GRCh38.p7 | 10:13098785 | GCAGTGGCATGATCT[C/T]GGCTCGCTGCAAGCT | 10133 |
rs182091715 | snp | A/C | 0.000798403 | 0.0199641 | intron-variant | OPTN | GRCh38.p7 | 10:13121889 | ATTATCTTTAACCAC[A/C]GTCTCTTGTTTCATT | 10133 |
rs182197596 | snp | C/T | 0.00208927 | 0.0322532 | intron-variant | OPTN | GRCh38.p7 | 10:13133453 | CTCAGTGTTGTCATG[C/T]TTCGGGGTTGTAGAA | 10133 |
rs182231095 | snp | C/G | 0.000798403 | 0.0199641 | intron-variant | OPTN | GRCh38.p7 | 10:13114189 | CTACTGGTTATATCT[C/G]AAATATGAATGTCTG | 10133 |
rs182237244 | snp | A/G | 0.0596104 | 0.162024 | intron-variant | OPTN | GRCh38.p7 | 10:13115160 | TATCTATATATTTAT[A/G]TATAGATATATCTAT | 10133 |
rs182349537 | snp | C/T | 0.00438332 | 0.0466095 | intron-variant | OPTN | GRCh38.p7 | 10:13117964 | CACGTTTCCCCCAAA[C/T]TGCTTTTGTCATATT | 10133 |
rs182356495 | snp | C/T | 0.000399281 | 0.0141238 | utr-variant-3-prime | OPTN | GRCh38.p7 | 10:13137334 | AAGGAGAAGAAAAGG[C/T]ACCTGTTCTACGTAG | 10133 |
rs182360887 | snp | G/T | 0.000399281 | 0.0141238 | intron-variant | OPTN | GRCh38.p7 | 10:13104286 | TTTTTGTGAGACAGG[G/T]TCTCACTCTGTCACC | 10133 |
rs182378742 | snp | A/G | 0.0023933 | 0.0345097 | intron-variant | OPTN | GRCh38.p7 | 10:13111519 | CCTGGCCAACATGGC[A/G]AAACCCCATCTCTAC | 10133 |
rs182523334 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | OPTN | GRCh38.p7 | 10:13123208 | GGAAAAGGTTCACTG[C/T]TGTCTTGTTCAGTGT | 10133 |
rs182775971 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | OPTN | GRCh38.p7 | 10:13127207 | GAATGGTTTTGAACT[C/T]CTGAGCTTAGGCAAT | 10133 |
rs182785881 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | OPTN | GRCh38.p7 | 10:13104891 | GCCCGACCGCAGGAC[C/T]GGGAGGCGAGTCGGC | 10133 |
rs182795530 | snp | A/G/T | 0.00358779 | 0.0422022 | intron-variant | OPTN | GRCh38.p7 | 10:13108623 | GCGATCTTGGCTCAC[A/G/T]GCAAGCTCTGCCTCC | 10133 |
rs182827592 | snp | C/T | 0.000399281 | 0.0141238 | utr-variant-3-prime | OPTN | GRCh38.p7 | 10:13137773 | TGGCATCGATGAAAC[C/T]GATAACATTGGCCTC | 10133 |
rs182829615 | snp | A/G | 0.00795532 | 0.062565 | intron-variant | OPTN | GRCh38.p7 | 10:13128692 | GGACTACAGGCATGT[A/G]CCAACATGCCTGGCT | 10133 |
rs182842758 | snp | A/C/T | 0.0213525 | 0.101239 | intron-variant | OPTN | GRCh38.p7 | 10:13111886 | GGAGTCTTGCTCTGT[A/C/T]GCCCAGGCTGGAGTA | 10133 |
rs182951187 | snp | A/G | | | intron-variant | OPTN | GRCh38.p7 | 10:13114923 | TTTTATAATAGATAT[A/G]TCTATATTTATATAT | 10133 |
rs182957382 | snp | A/G | 0.000399281 | 0.0141238 | missense | OPTN | GRCh38.p7 | 10:13132190 | GATGCTTTCGAAGAC[A/G]GAGGCAGGTAAGGAA | 10133 |
rs182959120 | snp | C/T | 0.00159617 | 0.0282053 | upstream-variant-2KB, intron-variant | OPTN, CCDC3 | GRCh38.p7 | 10:13099055 | TTTTTAAATTCTCTA[C/T]TTCTCCCCACTCCCA | 10133 |
rs183220001 | snp | G/T | 0.000798403 | 0.0199641 | intron-variant | OPTN | GRCh38.p7 | 10:13122696 | TTGTTGTTGTTGTTG[G/T]AGATGGAGTCTCACT | 10133 |
rs183383331 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | OPTN | GRCh38.p7 | 10:13117344 | CTTGGCCTCCCAAAG[C/T]GCTGGGATTACAGGC | 10133 |
rs183456272 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | OPTN | GRCh38.p7 | 10:13119339 | ACTGGCTTCTTTCAC[A/G]TAGCATAATGTTTTT | 10133 |
rs183602695 | snp | A/G | 0.00119737 | 0.0244387 | intron-variant | OPTN | GRCh38.p7 | 10:13136327 | AGTCTGGCCAACATG[A/G]CAAAACCACATCTCT | 10133 |
rs183638268 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | OPTN | GRCh38.p7 | 10:13103912 | TCCTTCCATCATTAA[A/G]TATCACTTTTGCCTA | 10133 |
rs183639935 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | OPTN | GRCh38.p7 | 10:13120649 | AGTTTGTTTCTGTGT[A/G]TGTTGTGATATAGGA | 10133 |
rs183652563 | snp | A/C | 0.000798403 | 0.0199641 | intron-variant | OPTN | GRCh38.p7 | 10:13105720 | TCAAGACCAGACTGG[A/C]CAACTTGGCAAAACC | 10133 |
rs183655006 | snp | C/T | 0.00119737 | 0.0244387 | intron-variant, upstream-variant-2KB | OPTN, CCDC3 | GRCh38.p7 | 10:13100936 | TTGTATGGAAATGTA[C/T]ACCAAGGAACTGTTT | 10133 |
rs183719491 | snp | A/T | 0.00914312 | 0.0669923 | intron-variant, upstream-variant-2KB | OPTN, CCDC3 | GRCh38.p7 | 10:13101604 | ACCCAAAGGAAAAAG[A/T]AAAAAATTAAACTTT | 10133 |
rs183745223 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | OPTN | GRCh38.p7 | 10:13124254 | AATTCAGAATATACT[A/G]ATGTTCCAGTTAATG | 10133 |
rs184086870 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | OPTN | GRCh38.p7 | 10:13133112 | AGATAATATTGATTT[C/T]TCTGTGTTTAAGTTA | 10133 |
rs184228192 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | OPTN | GRCh38.p7 | 10:13125251 | TAAGGGTTCAGAAAT[A/G]TGGCCAGGTCTAGTG | 10133 |
rs184319950 | snp | A/C | 0.0023933 | 0.0345097 | intron-variant | OPTN | GRCh38.p7 | 10:13129431 | GATCTTGGCTCACTG[A/C]AACCTCCACCTCCCG | 10133 |
rs184333348 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | OPTN | GRCh38.p7 | 10:13112698 | CCTGGAAAGATGAAA[C/T]AAATACCACTTTTTC | 10133 |
rs184358625 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | OPTN | GRCh38.p7 | 10:13109669 | GATCTCTACAAAAAA[A/G]TTAAAAAAAAAAAAA | 10133 |
rs184429534 | snp | C/T | 0.000798403 | 0.0199641 | intron-variant | OPTN | GRCh38.p7 | 10:13113601 | AACTGTGCCTGGGCA[C/T]AGGGGCAGCCCTATT | 10133 |
rs184434349 | snp | A/G | 0.00159617 | 0.0282053 | intron-variant | OPTN | GRCh38.p7 | 10:13130286 | AAAAATTAGCCGAGC[A/G]TGTTGGCGGGCACCT | 10133 |
rs184536495 | snp | C/T | 0.00438332 | 0.0466095 | intron-variant | OPTN | GRCh38.p7 | 10:13129054 | AAGGCCAGGAAGATA[C/T]TCCCTCTGTTGTCTT | 10133 |
rs184547000 | snp | C/T | 0.0029385 | 0.038218 | intron-variant | OPTN | GRCh38.p7 | 10:13125594 | GAGTCAGAAGGGCAG[C/T]GACGGGGCAGAGGAG | 10133 |
rs184561087 | snp | A/G/T | 8.29227e-05 | 0.00643858 | missense | OPTN | GRCh38.p7 | 10:13110394 | AAGAAGCAAAAGAGC[A/G/T]TCTAATGGCCTTGAG | 10133 |
rs184570082 | snp | A/G | | | intron-variant | OPTN | GRCh38.p7 | 10:13115470 | TATTATATAATATAG[A/G]ATATATATAATATAT | 10133 |
rs184581129 | snp | C/G/T | 0.0023933 | 0.0345097 | intron-variant | OPTN | GRCh38.p7 | 10:13133791 | GCCAGAAGGTGCCTG[C/G/T]CACGGCCACACTTTT | 10133 |
rs184857594 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | OPTN | GRCh38.p7 | 10:13124653 | GGCAAACATGTTTCT[A/G]GCACAATACGGAGGT | 10133 |
rs184878637 | snp | A/G | 8.28288e-05 | 0.00643487 | missense | OPTN | GRCh38.p7 | 10:13109153 | CTCAGCTGCCTCACT[A/G]AAAAGGAGGACAGCC | 10133 |
rs184958644 | snp | C/T | 0.00199481 | 0.0315187 | intron-variant | OPTN | GRCh38.p7 | 10:13116075 | ATAATCCCGACAGGG[C/T]GTGCCAGGTGAGGGG | 10133 |
rs184964586 | snp | C/T | 0.000798403 | 0.0199641 | intron-variant | OPTN | GRCh38.p7 | 10:13134228 | TGCCCTTCACAGAGA[C/T]GCCCTTTTCTTATGC | 10133 |
rs184968858 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | OPTN | GRCh38.p7 | 10:13102772 | ACGTGGCAAAACCCT[A/G]TCTCTACTAAAAATA | 10133 |
rs185095515 | snp | C/T | 0.00318978 | 0.0398085 | intron-variant | OPTN | GRCh38.p7 | 10:13119666 | CATTTTGCATTCCCA[C/T]CAGCAGTGCATGAGC | 10133 |
rs185200584 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | OPTN | GRCh38.p7 | 10:13105121 | AAATTACTTTTAGTA[A/G]AATTTTGGTATTAAG | 10133 |
rs185323491 | snp | C/T | 0.0023933 | 0.0345097 | utr-variant-5-prime, intron-variant | OPTN | GRCh38.p7 | 10:13108165 | TAGCTGGTGGTGCCA[C/T]TTCCTGGCCTTGGAT | 10133 |
rs185343654 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | OPTN | GRCh38.p7 | 10:13102177 | AGACATTTCGGGCAG[A/G]GGGCAGAAGGGAGGC | 10133 |
rs185604388 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | OPTN | GRCh38.p7 | 10:13131285 | CCTAGTCTCAGAAGC[C/T]GTACACCATCACTTC | 10133 |
rs185611555 | snp | A/G | 0.000399281 | 0.0141238 | upstream-variant-2KB, intron-variant | OPTN, CCDC3 | GRCh38.p7 | 10:13098954 | ACTCCGGACCTTGCG[A/G]TCTGCCTGCCTTGGC | 10133 |
rs185619319 | snp | C/T | 0.000798403 | 0.0199641 | intron-variant | OPTN | GRCh38.p7 | 10:13114546 | TTTTTAGTGTAAACA[C/T]GTTTTGCATGCGTTT | 10133 |
rs185705950 | snp | C/T | 0.0166325 | 0.0896639 | intron-variant | OPTN | GRCh38.p7 | 10:13133960 | ATTACAGGCGTGCAC[C/T]GCCACACCCAGCTAA | 10133 |
rs185730053 | snp | C/T | 0.000725199 | 0.0190282 | intron-variant | OPTN | GRCh38.p7 | 10:13132229 | GGAGGACCCAGAGCT[C/T]ACATCAGCATGGCCG | 10133 |
rs185736845 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | OPTN | GRCh38.p7 | 10:13102624 | CTAAGCCTGTGGGGA[C/T]GGAGAGGAGGCAGTG | 10133 |
rs185948264 | snp | C/T | 0.00159617 | 0.0282053 | intron-variant | OPTN | GRCh38.p7 | 10:13111495 | CTGAGGTGAGGAGTT[C/T]GAGACCAGCCTGGCC | 10133 |
rs185971792 | snp | G/T | 0.00119737 | 0.0244387 | intron-variant | OPTN | GRCh38.p7 | 10:13106961 | CCCCGTTAGAAATGG[G/T]ATGCTCGCTTCCAAG | 10133 |
rs185972378 | snp | A/C | 0.00159617 | 0.0282053 | intron-variant | OPTN | GRCh38.p7 | 10:13114268 | CTCTGAATAACCCTG[A/C]CATCCATTCCCCCTC | 10133 |
rs186084830 | snp | A/G | 0.00795532 | 0.062565 | intron-variant | OPTN | GRCh38.p7 | 10:13130621 | TGCTGAACCACTCAC[A/G]TTGATAGGATATCCC | 10133 |
rs186120828 | snp | C/T | | | upstream-variant-2KB, intron-variant | OPTN, CCDC3 | GRCh38.p7 | 10:13098841 | TCTGCCTTAGCCTCC[C/T]GAGTAGCTGGGACTA | 10133 |
rs186433979 | snp | C/T | 0.00318978 | 0.0398085 | intron-variant | OPTN | GRCh38.p7 | 10:13122825 | GGGATTACAGGTGCC[C/T]GTCACCACGCCTGGC | 10133 |
rs186516733 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | OPTN | GRCh38.p7 | 10:13106509 | CAGTGTTTTCTGCTT[C/T]GTAAGATTGCCATCA | 10133 |
rs186538013 | snp | A/G | 0.000798403 | 0.0199641 | intron-variant | OPTN | GRCh38.p7 | 10:13135234 | AACAGAGAGATGCCC[A/G]GGAGCCAGAAATAAT | 10133 |
rs186551156 | snp | A/G | 1.69321e-05 | 0.0029096 | synonymous-codon | OPTN | GRCh38.p7 | 10:13126027 | AACAATTGAGGAACT[A/G]ACAAGAAAAGAGGTA | 10133 |
rs186563214 | snp | C/G | 0.000399281 | 0.0141238 | intron-variant | OPTN | GRCh38.p7 | 10:13110808 | TTGTTTTTAGTTTGT[C/G]TTTGATATAAAAAAT | 10133 |
rs186634203 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | OPTN | GRCh38.p7 | 10:13118428 | CCACAAGTGAAAAAG[A/G]TTTTCTCCCCTTGAC | 10133 |
rs186634965 | snp | G/T | 0.00199481 | 0.0315187 | intron-variant | OPTN | GRCh38.p7 | 10:13122016 | GTCCTAAAAGGAAAA[G/T]TCTTTCCTTCTCTAA | 10133 |
rs186641822 | snp | A/G | 0.00636936 | 0.0560724 | utr-variant-3-prime | OPTN | GRCh38.p7 | 10:13137388 | AACTCGCAAAGTAGA[A/G]TCCTTACCTACTACT | 10133 |
rs186652297 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | OPTN | GRCh38.p7 | 10:13104709 | GATCAAGTCCCTGCA[A/G]TATTCCTTGGACGTG | 10133 |
rs186723919 | snp | C/T | 0.00199481 | 0.0315187 | intron-variant | OPTN | GRCh38.p7 | 10:13121577 | GTCTTGTTCCTAATC[C/T]TAGGGGGAAAGCTAA | 10133 |
rs186761292 | snp | A/G | 0.00358779 | 0.0422022 | intron-variant | OPTN | GRCh38.p7 | 10:13116842 | TGCCTGAAAGTGCCC[A/G]GATTTCTTATCTGTG | 10133 |
rs186992371 | snp | A/C/T | | | intron-variant | OPTN | GRCh38.p7 | 10:13102993 | AGGTAGAGGTGATGG[A/C/T]ATTTGGTGACCCATT | 10133 |
rs186994090 | snp | A/T | 0.000399281 | 0.0141238 | intron-variant | OPTN | GRCh38.p7 | 10:13128098 | TACATTTAATAGGTA[A/T]TTGGATTCTTTCCAG | 10133 |
rs187223025 | snp | C/T | | | intron-variant | OPTN | GRCh38.p7 | 10:13124423 | CTTAAGCTGATGACA[C/T]TGATGTGAGTAAGCA | 10133 |
rs187257874 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | OPTN | GRCh38.p7 | 10:13133483 | ACATCACACAGCGTG[C/T]TGCTTTTCGTCCTGG | 10133 |
rs187261347 | snp | A/T | 0.00716266 | 0.059414 | intron-variant, upstream-variant-2KB | OPTN, CCDC3 | GRCh38.p7 | 10:13101624 | AATTAAACTTTTTTT[A/T]AAAAAAATATTTCAT | 10133 |
rs187278976 | snp | A/C | | | intron-variant | OPTN | GRCh38.p7 | 10:13115247 | TATATCTATATATAT[A/C]TATATTTATATCTAT | 10133 |
rs187326591 | snp | C/T | 3.29468e-05 | 0.00405861 | synonymous-codon | OPTN | GRCh38.p7 | 10:13136845 | CACGTTACAGATTCA[C/T]GTGATGGATTGCATC | 10133 |
rs187349948 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | OPTN | GRCh38.p7 | 10:13103949 | ACATACTTCACATCT[A/G]GGTCAGTTGATTATG | 10133 |
rs187442081 | snp | C/T | | | intron-variant | OPTN | GRCh38.p7 | 10:13129194 | GAATATCCAGTTAAC[C/T]TGGCACCATTTAAGC | 10133 |
rs187612871 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | OPTN | GRCh38.p7 | 10:13117507 | CTGGAGTGAAGTGGC[A/G]CAATCTCAGCTCACT | 10133 |
rs187705825 | snp | C/T | 0.0941369 | 0.195465 | intron-variant | OPTN | GRCh38.p7 | 10:13111972 | CCTGCCTCAGCCTCC[C/T]GAGTAGCTGGGACTA | 10133 |
rs187725171 | snp | G/T | 0.000399281 | 0.0141238 | intron-variant | OPTN | GRCh38.p7 | 10:13124910 | TATGTCTAATGGGCT[G/T]GGCATTAATGCTTTG | 10133 |
rs187734249 | snp | C/T | 0.00130549 | 0.0255155 | synonymous-codon | OPTN | GRCh38.p7 | 10:13109269 | GAAAGAGCTCCTGAC[C/T]GAGAACCACCAGCTG | 10133 |
rs187863514 | snp | G/T | 0.000399281 | 0.0141238 | intron-variant | OPTN | GRCh38.p7 | 10:13128725 | TTTTTGTATTTTTAG[G/T]AGAGATGGGGTTTCA | 10133 |
rs187950216 | snp | G/T | 0.000798403 | 0.0199641 | intron-variant | OPTN | GRCh38.p7 | 10:13119359 | ATAATGTTTTTGAGG[G/T]TCATCTACAACGTAG | 10133 |
rs187959651 | snp | C/T | 0.000798403 | 0.0199641 | intron-variant | OPTN | GRCh38.p7 | 10:13120899 | GGGAAACCTAACAAA[C/T]CCTGGCGGAAAGCGA | 10133 |
rs187975355 | snp | A/G | 0.000798403 | 0.0199641 | intron-variant | OPTN | GRCh38.p7 | 10:13106257 | AAATTAGGTAGGAAC[A/G]CTGTTACTCAGTAAA | 10133 |
rs188096470 | snp | A/G | | | intron-variant | OPTN | GRCh38.p7 | 10:13108672 | CTGCCTCAGCCTCCC[A/G]AGTAGCTGGGACTAC | 10133 |
rs188217119 | snp | G/T | 0.000399281 | 0.0141238 | downstream-variant-500B | OPTN | GRCh38.p7 | 10:13138674 | AAAATATTCAGCAAA[G/T]CCAGACTGAAATAAT | 10133 |
rs188239961 | snp | A/C | 0.000399281 | 0.0141238 | upstream-variant-2KB, utr-variant-5-prime | OPTN, CCDC3 | GRCh38.p7 | 10:13099241 | TCAGGCTTGGCCAGG[A/C]AGCAGGAGGTCCAGA | 10133 |
rs188245408 | snp | A/G | 0.000798403 | 0.0199641 | intron-variant | OPTN | GRCh38.p7 | 10:13104904 | ACCGGGAGGCGAGTC[A/G]GCCAGAAAGAGGTGC | 10133 |
rs188384177 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | OPTN | GRCh38.p7 | 10:13123219 | ACTGTTGTCTTGTTC[A/G]GTGTTGTCTGGTAAT | 10133 |
rs188513434 | snp | A/T | 0.0256215 | 0.110247 | intron-variant | OPTN | GRCh38.p7 | 10:13114943 | TATTTATATATATTT[A/T]TATATAGATATATCT | 10133 |
rs188595368 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | OPTN | GRCh38.p7 | 10:13116129 | AGCCACCCCGTTTAA[A/G]CAGTGCACATCTGAA | 10133 |
rs188603742 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | OPTN | GRCh38.p7 | 10:13134723 | GTGAGCCACCACGCC[C/T]GGCTAATTTGTATTT | 10133 |
rs188607906 | snp | C/G | | | intron-variant | OPTN | GRCh38.p7 | 10:13102930 | CCTGGGCGACAGAGT[C/G]AGACTGAGTCTTAAT | 10133 |
rs188621276 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | OPTN | GRCh38.p7 | 10:13129509 | AGGCGCACACCACCA[C/T]GCTCAGCTAATTTTT | 10133 |
rs188640548 | snp | A/C | | | intron-variant | OPTN | GRCh38.p7 | 10:13113181 | CGCATGCCATCACAC[A/C]CGGCTAACTTTTTGT | 10133 |
rs188758740 | snp | A/T | | | intron-variant | OPTN | GRCh38.p7 | 10:13115076 | GTATATATATTTATA[A/T]ATATAGATATATCTA | 10133 |
rs188879302 | snp | C/T | 0.0162398 | 0.0886349 | intron-variant | OPTN | GRCh38.p7 | 10:13111916 | ACAGTGGCATAATCT[C/T]GGCTCACTGCAAGCT | 10133 |
rs188882035 | snp | A/G | 1.67922e-05 | 0.00289755 | missense | OPTN | GRCh38.p7 | 10:13110474 | TCAGAAAGGTCATCT[A/G]AGGTGAGCAGACCGA | 10133 |
rs189021673 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | OPTN | GRCh38.p7 | 10:13133142 | ACAAAATGATCACTG[C/T]AGGTATTGTTCTGCA | 10133 |
rs189051864 | snp | A/T | 0.00318978 | 0.0398085 | intron-variant, upstream-variant-2KB | OPTN, CCDC3 | GRCh38.p7 | 10:13101265 | ATAATTCATCTGTTT[A/T]TCCACTGGGCCAATT | 10133 |
rs189262336 | snp | A/C/G | 0.000363732 | 0.0134812 | intron-variant | OPTN | GRCh38.p7 | 10:13125595 | AGTCAGAAGGGCAGC[A/C/G]ACGGGGCAGAGGAGG | 10133 |
rs189266046 | snp | G/T | 0.000399281 | 0.0141238 | intron-variant | OPTN | GRCh38.p7 | 10:13102709 | GCACTTAGGGAGGCC[G/T]AGGTGGGTGGATCAC | 10133 |
rs189419702 | snp | A/G | 0.0178098 | 0.0926698 | intron-variant | OPTN | GRCh38.p7 | 10:13120235 | CCTCGTGATCTGCCC[A/G]CCTCAGCCTCCCAAA | 10133 |
rs189503810 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | OPTN | GRCh38.p7 | 10:13121604 | CTAAGGCCCCACCTT[C/T]GTCATCACTTCAGAG | 10133 |
rs189527526 | snp | G/T | | | upstream-variant-2KB, intron-variant | OPTN, CCDC3 | GRCh38.p7 | 10:13098847 | TTAGCCTCCCGAGTA[G/T]CTGGGACTACAGGAG | 10133 |
rs189658643 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | OPTN | GRCh38.p7 | 10:13109798 | CATGATCGTGCCACT[A/G]CACTTTAGCCTGGAT | 10133 |
rs189775231 | snp | C/G/T | 0.00835141 | 0.0640778 | intron-variant | OPTN | GRCh38.p7 | 10:13106935 | GGATCTCATTGAGAC[C/G/T]AGTGCCTTTCCCCCG | 10133 |
rs189793464 | snp | A/G | 0.00358779 | 0.0422022 | intron-variant | OPTN | GRCh38.p7 | 10:13133870 | CTGGAGTGCAGTGGC[A/G]AGATCTCGGCTCACT | 10133 |
rs189827128 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | OPTN | GRCh38.p7 | 10:13102346 | AACTGAAAGTCTGTC[A/G]TGTATGGGAAGGGTG | 10133 |
rs189928844 | snp | C/G | 0.000798403 | 0.0199641 | intron-variant | OPTN | GRCh38.p7 | 10:13125303 | ATTTCATTTTGCATT[C/G]ATAAACCCTACAGCC | 10133 |
rs190013060 | snp | A/T | 0.000798403 | 0.0199641 | intron-variant | OPTN | GRCh38.p7 | 10:13122948 | CCAGAGTGCTGGGAT[A/T]ACAGATATGAGCCAC | 10133 |
rs190018240 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | OPTN | GRCh38.p7 | 10:13131322 | ATCCTGGAGGTTACA[C/T]AGGTTGGGTTTATTC | 10133 |
rs190061388 | snp | A/T | 0.0792508 | 0.182605 | intron-variant | OPTN | GRCh38.p7 | 10:13115499 | ATTCTATATTATATA[A/T]TATAGAATATATATA | 10133 |
rs190330704 | snp | A/T | | | intron-variant | OPTN | GRCh38.p7 | 10:13115534 | ATTCTATAATATATA[A/T]TATAGAATATATTAT | 10133 |
rs190450104 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | OPTN | GRCh38.p7 | 10:13114169 | CAACTTGCAAAAAAG[C/T]TCACCTACTGGTTAT | 10133 |
rs190565438 | snp | A/G | 0.00199481 | 0.0315187 | intron-variant | OPTN | GRCh38.p7 | 10:13133961 | TTACAGGCGTGCACC[A/G]CCACACCCAGCTAAT | 10133 |
rs190652984 | snp | A/G | 0.00478085 | 0.0486577 | intron-variant | OPTN | GRCh38.p7 | 10:13128567 | ATTTTTTTTGAGACA[A/G]AGTCTTGCTCTGTCG | 10133 |
rs190665582 | snp | C/T | 0.000798403 | 0.0199641 | intron-variant | OPTN | GRCh38.p7 | 10:13111804 | GGCAATTGAGTCTCA[C/T]GGCCAGGTCCTTAGT | 10133 |
rs190708413 | snp | G/T | 0.000399281 | 0.0141238 | intron-variant | OPTN | GRCh38.p7 | 10:13130360 | AACCTGGGAGGCAGA[G/T]GTTGCAGTGAGCCGA | 10133 |
rs190942634 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | OPTN | GRCh38.p7 | 10:13104071 | TCTCTGTCTTTCCTC[A/G]GTTGAATGTAGCTCA | 10133 |
rs190945137 | snp | A/G | 0.00438332 | 0.0466095 | intron-variant | OPTN | GRCh38.p7 | 10:13117834 | AAAAAATTGTCTTCC[A/G]TTATGTTTCTAAGCC | 10133 |
rs190955860 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | OPTN | GRCh38.p7 | 10:13130811 | TAGTATTAAATTCCA[A/G]TACCAATGGAACAGT | 10133 |
rs190957989 | snp | A/G | 0.00279162 | 0.0372561 | intron-variant | OPTN | GRCh38.p7 | 10:13108602 | CCCAGGCTGGAGTGC[A/G]GTGGCGCGATCTTGG | 10133 |
rs191074898 | snp | A/G | 0.00159617 | 0.0282053 | intron-variant | OPTN | GRCh38.p7 | 10:13122041 | CTCTAATGAATTCTT[A/G]TGAATGAGATACCAT | 10133 |
rs191079564 | snp | G/T | 0.000798403 | 0.0199641 | intron-variant | OPTN | GRCh38.p7 | 10:13123377 | TTTATTCAACAAATA[G/T]GTACATTGAATGCCT | 10133 |
rs191085797 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | OPTN | GRCh38.p7 | 10:13107886 | ATACATCATTTTCAC[C/T]AAGTGTGAAGGTGGA | 10133 |
rs191223537 | snp | A/G/T | 0.00199481 | 0.0315187 | intron-variant | OPTN | GRCh38.p7 | 10:13114334 | TGTCAATTGAAAAGC[A/G/T]TATTTTGCCAGAGTA | 10133 |
rs191226491 | snp | G/T | 0.000399281 | 0.0141238 | intron-variant | OPTN | GRCh38.p7 | 10:13111503 | AGGAGTTCGAGACCA[G/T]CCTGGCCAACATGGC | 10133 |
rs191579338 | snp | A/G | | | intron-variant | OPTN | GRCh38.p7 | 10:13115138 | ATATAAATTTATAAT[A/G]TAGATATATCTATAT | 10133 |
rs191664201 | snp | A/T | 0.0376037 | 0.131863 | intron-variant | OPTN | GRCh38.p7 | 10:13115464 | ATTCTATATTATATA[A/T]TATAGAATATATATA | 10133 |
rs191671333 | snp | A/G | 0.00262551 | 0.0361367 | intron-variant | OPTN | GRCh38.p7 | 10:13133591 | AAAGAGGTGAGTCCC[A/G]TGTGATCCTGGATTT | 10133 |
rs191674268 | snp | C/G | 0.00119737 | 0.0244387 | intron-variant | OPTN | GRCh38.p7 | 10:13101866 | AGTTTGTCACCTACA[C/G]AGCAGAAAGCATTTT | 10133 |
rs191751844 | snp | A/G | 0.000798403 | 0.0199641 | intron-variant | OPTN | GRCh38.p7 | 10:13135808 | ATCCCTTTTCTTCTC[A/G]CAGATATCCTAGTAT | 10133 |
rs191782397 | snp | A/C | 0.000399281 | 0.0141238 | intron-variant | OPTN | GRCh38.p7 | 10:13103527 | AGACAGTGCCTGCTA[A/C]GGTCACTGCACTCGT | 10133 |
rs191797428 | snp | A/C | 0.000798403 | 0.0199641 | intron-variant | OPTN | GRCh38.p7 | 10:13118544 | TTTGAGACTAGATCT[A/C]TGGAAAGCTTGGCAC | 10133 |
rs191802719 | snp | G/T | 0.000399281 | 0.0141238 | utr-variant-3-prime | OPTN | GRCh38.p7 | 10:13137654 | ATGGATCTGTTGGAG[G/T]TTATGTGTGTATGTT | 10133 |
rs191813146 | snp | G/T | 0.000399281 | 0.0141238 | intron-variant | OPTN | GRCh38.p7 | 10:13104865 | AAGGGACAGCATGGG[G/T]GTGACCAGGGGCCCG | 10133 |
rs191988110 | snp | A/T | | | intron-variant | OPTN | GRCh38.p7 | 10:13115010 | TTATATATATTTATA[A/T]ATATAGATATATCTA | 10133 |
rs192070730 | snp | C/G/T | 0.0197981 | 0.0977281 | intron-variant | OPTN | GRCh38.p7 | 10:13117143 | TGGAGTGCAGTGGCG[C/G/T]GATCTCGGCTCACTG | 10133 |
rs192180901 | snp | C/T | 0.000399281 | 0.0141238 | utr-variant-3-prime | OPTN | GRCh38.p7 | 10:13137161 | GCGCATGCCTGTAGT[C/T]GCAGCTACTCGCGAG | 10133 |
rs192219970 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | OPTN | GRCh38.p7 | 10:13110968 | GAGGCTATCGCATTG[C/T]CACAGATGAAAAGAG | 10133 |
rs192308845 | snp | C/T | 0.00557542 | 0.0525036 | intron-variant | OPTN | GRCh38.p7 | 10:13132607 | CTGCAGCCTCAACTT[C/T]CTGAGCTCAGGTGAT | 10133 |
rs192345330 | snp | A/G | 0.000399281 | 0.0141238 | upstream-variant-2KB | OPTN, CCDC3 | GRCh38.p7 | 10:13099972 | GGGTGGGTAGCTGGG[A/G]GCGGACGCAGGAAAG | 10133 |
rs192350438 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | OPTN | GRCh38.p7 | 10:13120444 | AAACCGTTGCCTAAC[C/T]CAAGGTCACAAAGAT | 10133 |
rs192361873 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | OPTN | GRCh38.p7 | 10:13105521 | TATGCTTATAAAATC[C/T]GGGCAATGTGAGAAG | 10133 |
rs192463396 | snp | A/C | 0.000399281 | 0.0141238 | intron-variant | OPTN | GRCh38.p7 | 10:13133284 | GTTTCCTACTGATGA[A/C]AGTTTGGTTATTTCC | 10133 |
rs192466541 | snp | C/G | | | intron-variant | OPTN | GRCh38.p7 | 10:13109580 | CCTGTCATTCCATCA[C/G]TTTGGGAGGCCGAGG | 10133 |
rs192497863 | snp | A/G | 0.00676609 | 0.0577691 | intron-variant | OPTN | GRCh38.p7 | 10:13124432 | ATGACATTGATGTGA[A/G]TAAGCATAAAGAAAG | 10133 |
rs192519580 | snp | A/G | 1.67161e-05 | 0.00289098 | intron-variant | OPTN | GRCh38.p7 | 10:13109081 | GTGGGGCGGGGGACA[A/G]CTCTATTTTCAACAG | 10133 |
rs192708828 | snp | C/G | 0.000399281 | 0.0141238 | intron-variant | OPTN | GRCh38.p7 | 10:13129426 | GGCACGATCTTGGCT[C/G]ACTGCAACCTCCACC | 10133 |
rs192780799 | snp | C/T | 0.00119737 | 0.0244387 | intron-variant | OPTN | GRCh38.p7 | 10:13125053 | TGCAATTGACAGAAC[C/T]TATAACTTTTTTTTT | 10133 |
rs192859941 | snp | G/T | 0.0107246 | 0.0724382 | intron-variant | OPTN | GRCh38.p7 | 10:13108740 | TTTAGTAGAGACGGG[G/T]TTTCACTGTGTTAGC | 10133 |
rs192898585 | snp | A/G | 0.021333 | 0.101051 | intron-variant | OPTN | GRCh38.p7 | 10:13115503 | TATATTATATAATAT[A/G]GAATATATATAATAT | 10133 |
rs192967703 | snp | A/G | 0.000399281 | 0.0141238 | downstream-variant-500B | OPTN | GRCh38.p7 | 10:13138769 | TGAAGGCCATTTCAC[A/G]TAGTCAGTTTAAATT | 10133 |
rs192981827 | snp | G/T | 0.00795532 | 0.062565 | intron-variant | OPTN | GRCh38.p7 | 10:13104948 | GGTAACTACGCCGAC[G/T]TGCGAGCTCTGCTAC | 10133 |
rs193044593 | snp | A/T | 0.00119737 | 0.0244387 | intron-variant | OPTN | GRCh38.p7 | 10:13128863 | TTTTAAAAAAATGTA[A/T]TGACTTCTATGTATA | 10133 |
rs193190449 | snp | A/G | | | intron-variant | OPTN | GRCh38.p7 | 10:13119603 | TCATACGGTATCGCT[A/G]TTTCATATTCTAAGG | 10133 |
rs193222991 | snp | G/T | 0.00557542 | 0.0525036 | intron-variant | OPTN | GRCh38.p7 | 10:13111917 | CAGTGGCATAATCTC[G/T]GCTCACTGCAAGCTC | 10133 |
rs193255154 | snp | G/T | 0.000399281 | 0.0141238 | intron-variant | OPTN | GRCh38.p7 | 10:13102524 | GTTCTCAGTCCTGGG[G/T]ATACAGCAGTGGACA | 10133 |
rs199680428 | snp | G/T | 1.73066e-05 | 0.0029416 | intron-variant | OPTN | GRCh38.p7 | 10:13126043 | ACAAGAAAAGAGGTA[G/T]TCACTGAAAAAAATT | 10133 |
rs199700857 | snp | C/G/T | 0.00199792 | 0.0315431 | missense | OPTN | GRCh38.p7 | 10:13116319 | ATAGTCCTGGGCCCA[C/G/T]GAGAACAGTCTCCAC | 10133 |
rs199783505 | snp | C/T | | | intron-variant | OPTN | GRCh38.p7 | 10:13117080 | GAACTCTAAGGATCT[C/T]TTTTTTTTTTTTTTT | 10133 |
rs199964639 | snp | A/C | | | intron-variant | OPTN | GRCh38.p7 | 10:13127468 | GGAATTCATTATTTG[A/C]AAGCCACAACTTAAA | 10133 |
rs199976882 | snp | G/T | 0.00103751 | 0.0227525 | intron-variant | OPTN | GRCh38.p7 | 10:13124154 | CTTTGAAATATACAT[G/T]TTTACAAAGTATACT | 10133 |
rs199995684 | in-del | -/G | | | intron-variant | OPTN | GRCh38.p7 | 10:13117448 | ATGGAGTTTTTTTTT[-/G]TTTTTTTTTTTTTTT | 10133 |
rs200030853 | snp | A/G/T | 8.33971e-05 | 0.00645697 | intron-variant | OPTN | GRCh38.p7 | 10:13109332 | ATTCATCCTGGGCCT[A/G/T]CAAGAAATGCCATCC | 10133 |
rs200047182 | snp | A/G | 0.000147165 | 0.00857678 | intron-variant | OPTN | GRCh38.p7 | 10:13110516 | GTTGTTTTTTTTTTT[A/G]CCCTTGACATTTGCA | 10133 |
rs200088838 | snp | A/G | 0.001054 | 0.0229323 | missense | OPTN | GRCh38.p7 | 10:13133528 | TGGAGATGCAGAGTC[A/G]TCATGGGGCGAGAAC | 10133 |
rs200114679 | snp | A/C | 0.00129287 | 0.0253922 | missense | OPTN | GRCh38.p7 | 10:13124021 | AGTGGAAGCACTGAA[A/C]CTCCAGGTGACATCT | 10133 |
rs200169099 | snp | C/T | 6.79359e-05 | 0.00582781 | synonymous-codon | OPTN | GRCh38.p7 | 10:13124003 | ATGATAGGTTGGAAG[C/T]GAAGTGGAAGCACTG | 10133 |
rs200363633 | snp | A/G | 1.67725e-05 | 0.00289585 | intron-variant | OPTN | GRCh38.p7 | 10:13116230 | ATTTGTCTTGTAGAC[A/G]TATTGTGTTAAATCC | 10133 |
rs200507530 | snp | A/T | | | intron-variant | OPTN | GRCh38.p7 | 10:13102947 | GACTGAGTCTTAATT[A/T]AAAAAAAAAAAGAAA | 10133 |
rs200525334 | snp | C/T | 0.000730533 | 0.019098 | intron-variant | OPTN | GRCh38.p7 | 10:13109314 | CTGGCCCCTGTGTGC[C/T]CCATTCATCCTGGGC | 10133 |
rs200525600 | snp | C/T | 1.75118e-05 | 0.00295898 | intron-variant | OPTN | GRCh38.p7 | 10:13125931 | GATTCCATTTTTTAA[C/T]ATCTTTTTTAATAGG | 10133 |
rs200687404 | in-del | -/AAAAAAAAAAAA | 0.454904 | 0.143228 | intron-variant | OPTN | GRCh38.p7 | 10:13121501 | GCCTGATTATCCTGT[-/AAAAAAAAAAAA]AAAAAAAAAAAAAAA | 10133 |
rs200693888 | in-del | -/T | | | intron-variant | OPTN | GRCh38.p7 | 10:13128548 | TTGGTTTGGTTTGCC[-/T]GGCATTTTTTTTGAG | 10133 |
rs200701803 | snp | C/T | 3.30136e-05 | 0.00406273 | intron-variant | OPTN | GRCh38.p7 | 10:13132243 | TCACATCAGCATGGC[C/T]GTAGAAGAGGTGCCT | 10133 |
rs200710076 | snp | A/C/G/T | 0.000198287 | 0.00995553 | missense | OPTN | GRCh38.p7 | 10:13109198 | GGAAATGGACCCCCC[A/C/G/T]ACCTGGCCCACCCAA | 10133 |
rs200744302 | in-del | -/G | | | intron-variant | OPTN | GRCh38.p7 | 10:13111695 | AGTGAGACTCTGTCT[-/G]GGAAAAAAAAATTGT | 10133 |
rs200801792 | in-del | -/A | 0.111576 | 0.20818 | intron-variant | OPTN | GRCh38.p7 | 10:13115634 | TATATCTAAATATCT[-/A]AATATATTATATATA | 10133 |
rs200834482 | snp | C/T | | | intron-variant | OPTN | GRCh38.p7 | 10:13109854 | AAAAAAAAAAAAAAA[C/T]GAAAAAGGAAGAAAG | 10133 |
rs200863693 | snp | C/T | 6.58957e-05 | 0.00573964 | missense | OPTN | GRCh38.p7 | 10:13112523 | AGCTCAGGACCCAGG[C/T]GGTGAGGCTACAAGC | 10133 |
rs200899194 | snp | A/G | 0.000227928 | 0.010673 | intron-variant | OPTN | GRCh38.p7 | 10:13119050 | AGAAAGGTATGAAAT[A/G]GGTTAACTTGAAATA | 10133 |
rs200980497 | in-del | -/A | 0.352504 | 0.228019 | intron-variant | OPTN | GRCh38.p7 | 10:13115092 | TATAGATATATCTAT[-/A]TTTATATATTTTTAT | 10133 |
rs200986633 | snp | A/C | | | intron-variant | OPTN | GRCh38.p7 | 10:13109933 | AGCATCCTGGTATCT[A/C]AAGATGGCTTTGGGC | 10133 |
rs200996314 | snp | A/C | | | intron-variant, upstream-variant-2KB | OPTN, CCDC3 | GRCh38.p7 | 10:13101407 | ACCCCCCCACCCCCC[A/C]ACCCACCCCCGGAAA | 10133 |
rs201281922 | in-del | -/TTT | | | intron-variant | OPTN | GRCh38.p7 | 10:13104255 | ATTAGTTTTTTTTTC[-/TTT]TTTTTTTTTTTTTTT | 10133 |
rs201299006 | snp | A/G | | | intron-variant | OPTN | GRCh38.p7 | 10:13109856 | AAAAAAAAAAAAAGG[A/G]AAAAGGAAGAAAGGC | 10133 |
rs201379407 | snp | A/T | | | intron-variant | OPTN | GRCh38.p7 | 10:13104449 | TTTTTTTTTTTTACT[A/T]TTACAAAATTTATTT | 10133 |
rs201386517 | snp | C/T | 3.32094e-05 | 0.00407475 | intron-variant | OPTN | GRCh38.p7 | 10:13125617 | CAGAGGAGGGAGAAT[C/T]GCCTTTTTATACAGA | 10133 |
rs201442592 | in-del | -/TA | | | intron-variant | OPTN | GRCh38.p7 | 10:13114932 | AGATATATCTATATT[-/TA]TATATATTTATATAT | 10133 |
rs201453893 | in-del | -/T | | | intron-variant | OPTN | GRCh38.p7 | 10:13132913 | TATTTGCTTCAAGTA[-/T]TTTTTTTTTTATTAA | 10133 |
rs201508776 | snp | A/G | 0.000399281 | 0.0141238 | synonymous-codon | OPTN | GRCh38.p7 | 10:13132186 | GAATGATGCTTTCGA[A/G]GACGGAGGCAGGTAA | 10133 |
rs201518410 | snp | A/G | 3.29755e-05 | 0.00406038 | missense | OPTN | GRCh38.p7 | 10:13112597 | AAGCTGAACTCCAGC[A/G]GCTCCTCAGAAGATT | 10133 |
rs201558814 | snp | A/G | | | intron-variant | OPTN | GRCh38.p7 | 10:13116915 | ACATCTTAAATAGTG[A/G]CAGGGCCTTGGGGAG | 10133 |
rs201614565 | snp | C/G | | | intron-variant | OPTN | GRCh38.p7 | 10:13107343 | TCGCTCCACTGCACT[C/G]CAGCCTGGGCAACAG | 10133 |
rs201675245 | in-del | -/T | 0.0130921 | 0.0798413 | intron-variant, upstream-variant-2KB | OPTN, CCDC3 | GRCh38.p7 | 10:13101616 | AGAAAAAAATTAAAC[-/T]TTTTTTTTAAAAAAA | 10133 |
rs201896586 | snp | A/G | 8.25253e-05 | 0.00642307 | missense | OPTN | GRCh38.p7 | 10:13122417 | AGAAAACAAGTAATC[A/G]TTCTGAGATTGAAAC | 10133 |
rs201948405 | snp | C/G | | | intron-variant | OPTN | GRCh38.p7 | 10:13112713 | CAAATACCACTTTTT[C/G]TTGTCAACACAAGCC | 10133 |
rs201978271 | snp | G/T | 0.000158606 | 0.00890381 | intron-variant | OPTN | GRCh38.p7 | 10:13110507 | CATTGTGATGTTGTT[G/T]TTTTTTTTTCCCTTG | 10133 |
rs201995280 | snp | C/T | 0.000153988 | 0.00877328 | intron-variant | OPTN | GRCh38.p7 | 10:13116250 | GTGTTAAATCCCTTG[C/T]ATTTCTGTTTTCACA | 10133 |
rs202006990 | snp | A/G | 6.59924e-05 | 0.00574385 | intron-variant | OPTN | GRCh38.p7 | 10:13133492 | AGCGTGTTGCTTTTC[A/G]TCCTGGCAGGCAGTC | 10133 |
rs202043694 | in-del | -/TT | 0.0441095 | 0.141807 | intron-variant | OPTN | GRCh38.p7 | 10:13129027 | TCCTGTTTAAGAAAC[-/TT]TTACTACCCCAAGGC | 10133 |
rs202044898 | snp | A/T | 0.000165761 | 0.00910235 | missense | OPTN | GRCh38.p7 | 10:13110382 | AGATACAGAGCAAAG[A/T]AGCAAAAGAGCGTCT | 10133 |
rs202195547 | in-del | -/ATA | | | intron-variant | OPTN | GRCh38.p7 | 10:13114877 | CAATTATATAATTGT[-/ATA]ATTATATACACTTAC | 10133 |
rs267606928 | snp | C/G/T | 1.66316e-05 | 0.00288367 | OPTN | 10 | allele_origin=T(germline)/C(germline) | 10:13125989 | CACAACAAGCTTCTT[C/G/T]AAGAACATAATAATG | 10133 |
rs267606929 | snp | A/G | | | missense | OPTN | GRCh38.p7 | 10:13132098 | CTGATTTTCATGCTG[A/G]AAGAGCAGCGAGAGA | 10133 |
rs367560099 | snp | G/T | | | intron-variant | OPTN | GRCh38.p7 | 10:13115165 | ATATATTTATATATA[G/T]ATATATCTATATTTT | 10133 |
rs367585106 | snp | A/G | | | intron-variant, upstream-variant-2KB | OPTN, CCDC3 | GRCh38.p7 | 10:13100863 | CTACAGGAAGTAAAC[A/G]TCGCTCAAAGAAAAT | 10133 |
rs367636895 | in-del | -/CCGAGTAGCT | | | intron-variant | OPTN | GRCh38.p7 | 10:13126413 | GCCTCCCGAGTAGCT[-/CCGAGTAGCT]GGGACTACAGGCGCC | 10133 |
rs367641761 | snp | C/T | 4.95094e-05 | 0.00497517 | synonymous-codon | OPTN | GRCh38.p7 | 10:13127826 | CTGGCTTCCAAACAG[C/T]TGCAAATGGATGAAA | 10133 |
rs367658571 | snp | A/G | 9.90867e-05 | 0.00703801 | synonymous-codon | OPTN | GRCh38.p7 | 10:13109233 | GGACACGTTTACCCC[A/G]GAGGAGCTGCTGCAG | 10133 |
rs367719159 | snp | C/G | | | intron-variant | OPTN | GRCh38.p7 | 10:13132859 | GAGAATAAAATAACA[C/G]ACTCTACTATGTACT | 10133 |
rs367828232 | snp | C/T | | | intron-variant | OPTN | GRCh38.p7 | 10:13106290 | CCTATTTTAATGAGA[C/T]GATTCTGGGTACAAA | 10133 |
rs367828985 | in-del | -/A/AAAA | | | intron-variant | OPTN | GRCh38.p7 | 10:13136505 | GCGAGACTCCGTCTC[-/A/AAAA]AAAAAAAAAAAAAAA | 10133 |
rs367853586 | snp | A/G | 0.0023933 | 0.0345097 | intron-variant | OPTN | GRCh38.p7 | 10:13121342 | AGCTTGTTAATTTGT[A/G]AAAAAAGCCAGCTGG | 10133 |
rs367856994 | in-del | -/G | | | utr-variant-3-prime | OPTN | GRCh38.p7 | 10:13137214 | ACCCAGGAAGTGGCA[-/G]GTTGCAGTGAGCCGA | 10133 |
rs367866864 | snp | G/T | | | missense | OPTN | GRCh38.p7 | 10:13125483 | AAAAGCAAGAGCTTG[G/T]TTATACTAACAAAAA | 10133 |
rs367877803 | snp | A/G | | | intron-variant | OPTN | GRCh38.p7 | 10:13133971 | GCACCGCCACACCCA[A/G]CTAATTTTTGTATTT | 10133 |
rs367884332 | snp | A/G | | | intron-variant | OPTN | GRCh38.p7 | 10:13103742 | TATATACACACACAT[A/G]CACACACACACACAC | 10133 |
rs367912321 | in-del | -/TTATAA | | | intron-variant | OPTN | GRCh38.p7 | 10:13115248 | TATCTATATATATCT[-/TTATAA]ATATTTATATCTATA | 10133 |
rs367971048 | in-del | -/CT | | | intron-variant | OPTN | GRCh38.p7 | 10:13103972 | TGATTATGGGAAACT[-/CT]GTTATTTGATAGAAT | 10133 |
rs368067330 | snp | A/G | | | utr-variant-3-prime | OPTN | GRCh38.p7 | 10:13137228 | CAGTTGCAGTGAGCC[A/G]AGACGACACCACTGC | 10133 |
rs368095466 | in-del | -/CG | | | intron-variant | OPTN | GRCh38.p7 | 10:13114837 | TATATAATTATATAA[-/CG]TTATATAATTGTATA | 10133 |
rs368194109 | snp | A/T | 0.00199481 | 0.0315187 | intron-variant | OPTN | GRCh38.p7 | 10:13105919 | GTCTGAAAAAAAAAA[A/T]AAAGTTCATTGAGGA | 10133 |
rs368244180 | snp | A/G | 1.64738e-05 | 0.00286995 | missense | OPTN | GRCh38.p7 | 10:13118940 | GCCAAGAATTACTTC[A/G]AACATGAGGAGTTAA | 10133 |
rs368247689 | snp | C/T | 0.000153988 | 0.00877328 | intron-variant | OPTN | GRCh38.p7 | 10:13124147 | TATCCTCCTTTGAAA[C/T]ATACATTTTTACAAA | 10133 |
rs368294041 | snp | A/T | | | intron-variant | OPTN | GRCh38.p7 | 10:13115241 | TATAGATATATCTAT[A/T]TATATCTATATTTAT | 10133 |
rs368325330 | snp | C/G/T | 0.00013292 | 0.00815131 | intron-variant | OPTN | GRCh38.p7 | 10:13133456 | AGTGTTGTCATGTTT[C/G/T]GGGGTTGTAGAACAT | 10133 |
rs368496729 | snp | A/T | | | intron-variant | OPTN | GRCh38.p7 | 10:13115219 | TATATTTATATATAT[A/T]TTTATATATAGATAT | 10133 |
rs368541903 | in-del | -/TATT | | | intron-variant | OPTN | GRCh38.p7 | 10:13114992 | ATATAGATATATCTA[-/TATT]TATATATATTTATAT | 10133 |
rs368638799 | snp | C/G | | | intron-variant | OPTN | GRCh38.p7 | 10:13105738 | ACTTGGCAAAACCCT[C/G]TCTCTACTAAAAATA | 10133 |
rs368654623 | snp | A/G | 0.000346749 | 0.0131626 | intron-variant | OPTN | GRCh38.p7 | 10:13125580 | AAAGTGAGTATGTTG[A/G]GTCAGAAGGGCAGCG | 10133 |
rs368656372 | in-del | -/AA | | | intron-variant | OPTN | GRCh38.p7 | 10:13114944 | TTTATATATATTTAT[-/AA]ATATAGATATATCTA | 10133 |
rs368693578 | snp | A/G | | | intron-variant | OPTN | GRCh38.p7 | 10:13120906 | CTAACAAATCCTGGC[A/G]GAAAGCGAAGGGGAA | 10133 |
rs368712790 | snp | C/T | 0.0486741 | 0.148216 | intron-variant | OPTN | GRCh38.p7 | 10:13126366 | GCTCACTGCAAGCTC[C/T]GCCTCCTGGGTTCAC | 10133 |
rs368738460 | in-del | -/T | 0.0341408 | 0.126114 | upstream-variant-2KB, intron-variant | OPTN, CCDC3 | GRCh38.p7 | 10:13099343 | GTTGTTGTTGTTTTG[-/T]TTTTTTTTCTCTCCC | 10133 |
rs368746660 | in-del | -/TT | | | intron-variant | OPTN | GRCh38.p7 | 10:13115028 | ATAGATATATCTATA[-/TT]TATATATTTTTATAT | 10133 |
rs368882393 | in-del | -/CGAGTAGCTC | | | intron-variant | OPTN | GRCh38.p7 | 10:13126404 | CCTGCCTCAGCCTCC[-/CGAGTAGCTC]CGAGTAGCTGGGACT | 10133 |
rs368917034 | snp | A/G | | | intron-variant | OPTN | GRCh38.p7 | 10:13111623 | GAATTGCTTAAACCC[A/G]AGAGGTGGAGGATGC | 10133 |
rs368931193 | snp | A/G | | | intron-variant | OPTN | GRCh38.p7 | 10:13102369 | GAAGGGTGGACTCAG[A/G]GGAATGACCTCATAT | 10133 |
rs368936567 | snp | A/G | | | intron-variant | OPTN | GRCh38.p7 | 10:13134398 | ATTTTATAGGTGTTT[A/G]TGTGTTCTAGGTAGA | 10133 |
rs368955103 | snp | A/C/G | 0.00013229 | 0.0081319 | intron-variant | OPTN | GRCh38.p7 | 10:13125598 | CAGAAGGGCAGCGAC[A/C/G]GGGCAGAGGAGGGAG | 10133 |
rs368967883 | snp | A/C | | | upstream-variant-2KB | OPTN, CCDC3 | GRCh38.p7 | 10:13099921 | GAGCAGTCCCTGTTC[A/C]CCCGGGTCCCAGCCT | 10133 |
rs369010111 | snp | C/T | | | upstream-variant-2KB, utr-variant-5-prime | OPTN, CCDC3 | GRCh38.p7 | 10:13098591 | GTACAGCTGTGACAC[C/T]GTCTTTTCTGCCTGG | 10133 |
rs369022665 | snp | A/T | | | intron-variant | OPTN | GRCh38.p7 | 10:13114802 | TATATAATTATATAT[A/T]CATATATATAATTAT | 10133 |
rs369050777 | snp | C/G | 3.29489e-05 | 0.00405874 | utr-variant-3-prime | OPTN | GRCh38.p7 | 10:13136884 | GTTGATGTATCACCT[C/G]CCCAAAACTGTTGGT | 10133 |
rs369052466 | snp | G/T | | | intron-variant | OPTN | GRCh38.p7 | 10:13115252 | CTATATATATCTATA[G/T]TTATATCTATATTTA | 10133 |
rs369062557 | snp | A/G | | | intron-variant | OPTN | GRCh38.p7 | 10:13126548 | GCCTCCCAAAGTGCT[A/G]GGATTACAGGCGTGA | 10133 |
rs369071606 | snp | C/G/T | 9.9004e-05 | 0.00703514 | missense | OPTN | GRCh38.p7 | 10:13112468 | GACCCCACTGATGAC[C/G/T]CCAGGCTTCCCAGGG | 10133 |
rs369086261 | in-del | -/A/AA/AAA | | | intron-variant | OPTN | GRCh38.p7 | 10:13109834 | GAGAGACCCTGACTC[-/A/AA/AAA]AAAAAAAAAAAAAAA | 10133 |
rs369171744 | snp | A/G | 0.000798403 | 0.0199641 | intron-variant | OPTN | GRCh38.p7 | 10:13108908 | CATGCACACATGCGC[A/G]TGCACACACACACAC | 10133 |
rs369204213 | snp | C/T | 0.000153988 | 0.00877328 | missense | OPTN | GRCh38.p7 | 10:13124038 | TCCAGGTGACATCTC[C/T]GTTTAAGGAGCTTCA | 10133 |
rs369302569 | in-del | -/C | | | intron-variant | OPTN | GRCh38.p7 | 10:13104254 | AATTAGTTTTTTTTT[-/C]TTTTTTTTTTTTTTT | 10133 |
rs369350412 | snp | A/G | 0.000798403 | 0.0199641 | upstream-variant-2KB, utr-variant-5-prime | OPTN, CCDC3 | GRCh38.p7 | 10:13099603 | AGCCTATTCGTCCGC[A/G]ACAAGAGCCCAAGAA | 10133 |
rs369350842 | snp | A/T | | | intron-variant | OPTN | GRCh38.p7 | 10:13126669 | TGCTCTGGGGAATTG[A/T]GCAAGACCAGCGTGC | 10133 |
rs369436015 | in-del | -/T | | | intron-variant | OPTN | GRCh38.p7 | 10:13117872 | AAGGAAGAAAGTAAG[-/T]TATTAGATAATATTC | 10133 |
rs369468684 | snp | C/T | | | intron-variant | OPTN | GRCh38.p7 | 10:13122530 | CCACACCCACACACA[C/T]GAGAGTAGTCCAGCC | 10133 |
rs369518464 | snp | A/T | | | intron-variant | OPTN | GRCh38.p7 | 10:13115463 | TATTCTATATTATAT[A/T]ATATAGAATATATAT | 10133 |
rs369585614 | snp | A/G | 1.64768e-05 | 0.00287021 | missense | OPTN | GRCh38.p7 | 10:13118905 | CATTGTCTAAATATA[A/G]GAGCAGATCTGCAGA | 10133 |
rs369625258 | snp | G/T | 1.67178e-05 | 0.00289113 | intron-variant | OPTN | GRCh38.p7 | 10:13112686 | TATAAAGCCTCCCCT[G/T]GAAAGATGAAACAAA | 10133 |
rs369724782 | snp | C/T | 6.59685e-05 | 0.00574281 | intron-variant | OPTN | GRCh38.p7 | 10:13127933 | AAAACCCCAGCTGAG[C/T]GAGGCCAGCCCTGAC | 10133 |
rs369728206 | snp | A/T | 3.54152e-05 | 0.00420789 | intron-variant | OPTN | GRCh38.p7 | 10:13127696 | ATATTTTACTAAAAC[A/T]GGCAGAATTATTTCA | 10133 |
rs369760173 | snp | C/T | 9.89169e-05 | 0.00703197 | synonymous-codon | OPTN | GRCh38.p7 | 10:13112596 | CAAGCTGAACTCCAG[C/T]GGCTCCTCAGAAGAT | 10133 |
rs369778243 | in-del | -/AA | | | intron-variant | OPTN | GRCh38.p7 | 10:13115159 | TATCTATATATTTAT[-/AA]ATATAGATATATCTA | 10133 |
rs369796232 | snp | C/G | 4.97129e-05 | 0.00498538 | missense | OPTN | GRCh38.p7 | 10:13116288 | GAAGCAGAAGGGTCA[C/G]TAAAAGAAATCAAGC | 10133 |
rs369808524 | snp | A/T | | | intron-variant | OPTN | GRCh38.p7 | 10:13115265 | TATTTATATCTATAT[A/T]TATATAATGAATACA | 10133 |
rs369825137 | snp | A/G/T | 0.000131916 | 0.00812048 | intron-variant | OPTN | GRCh38.p7 | 10:13132027 | TAAGAATCTGCATTC[A/G/T]TCTAGGTACTAACTT | 10133 |
rs369935295 | snp | C/T | | | intron-variant | OPTN | GRCh38.p7 | 10:13135771 | TCCACATTCCCTTCC[C/T]CTTTTGCTTATATCC | 10133 |
rs369971287 | snp | C/G | | | utr-variant-5-prime, upstream-variant-2KB | OPTN, CCDC3 | GRCh38.p7 | 10:13100152 | GGCCGCGCATCAGCC[C/G]TAGGCACCCCAGTCC | 10133 |
rs370116773 | in-del | -/AA | | | intron-variant | OPTN | GRCh38.p7 | 10:13115224 | TATATATATATTTAT[-/AA]ATATAGATATATCTA | 10133 |
rs370148611 | in-del | -/T | | | intron-variant | OPTN | GRCh38.p7 | 10:13114801 | TTATATAATTATATA[-/T]ACATATATATAATTA | 10133 |
rs370149624 | snp | A/G | | | intron-variant | OPTN | GRCh38.p7 | 10:13105283 | GAGAGTGACTGGCCT[A/G]CCCGTGATACTTGGT | 10133 |
rs370150545 | snp | C/T | 0.00358779 | 0.0422022 | intron-variant | OPTN | GRCh38.p7 | 10:13117141 | GCTGGAGTGCAGTGG[C/T]GTGATCTCGGCTCAC | 10133 |
rs370160575 | snp | C/G | | | intron-variant, upstream-variant-2KB | OPTN, CCDC3 | GRCh38.p7 | 10:13100500 | GCCTCGGCGGGTCCT[C/G]ACCTGGTGGGAGAGG | 10133 |
rs370170403 | in-del | -/TATATAAT | | | intron-variant | OPTN | GRCh38.p7 | 10:13114807 | AATTATATATACATA[-/TATATAAT]TATATAATTATATAA | 10133 |
rs370174006 | snp | C/T | | | intron-variant | OPTN | GRCh38.p7 | 10:13136482 | CACTGCCCTCCAGCC[C/T]GGGTGACAGCGAGAC | 10133 |
rs370245938 | snp | A/T | | | intron-variant | OPTN | GRCh38.p7 | 10:13115166 | TATATTTATATATAG[A/T]TATATCTATATTTTA | 10133 |
rs370287061 | snp | A/C/G | 0.000247084 | 0.0111123 | synonymous-codon | OPTN | GRCh38.p7 | 10:13132108 | TGCTGAAAGAGCAGC[A/C/G]AGAGAGAAAATTCAT | 10133 |
rs370356468 | snp | C/T | | | intron-variant | OPTN | GRCh38.p7 | 10:13104947 | TGGTAACTACGCCGA[C/T]GTGCGAGCTCTGCTA | 10133 |
rs370358202 | snp | A/G | 9.96992e-05 | 0.00705972 | intron-variant | OPTN | GRCh38.p7 | 10:13125386 | ACGTAAAGGAGCATT[A/G]TTTATCCTCATGAAA | 10133 |
rs370370110 | snp | C/T | | | synonymous-codon | OPTN | GRCh38.p7 | 10:13136842 | AGACACGTTACAGAT[C/T]CACGTGATGGATTGC | 10133 |
rs370370788 | snp | A/G | 1.65789e-05 | 0.0028791 | missense | OPTN | GRCh38.p7 | 10:13109142 | CCCATCAACCTCTCA[A/G]CTGCCTCACTGAAAA | 10133 |
rs370413251 | snp | A/G | 1.64925e-05 | 0.00287158 | synonymous-codon | OPTN | GRCh38.p7 | 10:13125511 | AAAGTTAGAGCTACA[A/G]GTGGAAAGCATGCTA | 10133 |
rs370440352 | snp | A/T | | | intron-variant | OPTN | GRCh38.p7 | 10:13115039 | TATATTTATATATTT[A/T]TATATATAGATATAT | 10133 |
rs370513371 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | OPTN | GRCh38.p7 | 10:13110638 | GCTGAAAAGATTGGT[C/T]GCCCTATTAAGGGTC | 10133 |
rs370530198 | in-del | -/TC | | | intron-variant | OPTN | GRCh38.p7 | 10:13104253 | AAATTAGTTTTTTTT[-/TC]TTTTTTTTTTTTTTT | 10133 |
rs370548088 | snp | A/G | | | intron-variant | OPTN | GRCh38.p7 | 10:13103738 | AATGTATATACACAC[A/G]CATGCACACACACAC | 10133 |
rs370676162 | in-del | -/CT | | | upstream-variant-2KB, intron-variant | OPTN, CCDC3 | GRCh38.p7 | 10:13099410 | TCTCTCCGTCCCTCC[-/CT]CTCTCTCTCTCTCCC | 10133 |
rs370742345 | snp | C/T | | | intron-variant | OPTN | GRCh38.p7 | 10:13111652 | GCAGTAAGCTGAGAT[C/T]GCGCCATTGCACTCC | 10133 |
rs370756023 | snp | A/G | | | intron-variant | OPTN | GRCh38.p7 | 10:13131361 | AGGGAAACATACAAG[A/G]TGATGAATACCAAGA | 10133 |
rs370838021 | snp | C/T | 0.00557542 | 0.0525036 | intron-variant | OPTN | GRCh38.p7 | 10:13117181 | CGCCTCCCGGGTTCA[C/T]GCCATTCTCCTGCCT | 10133 |
rs370841578 | snp | G/T | | | intron-variant | OPTN | GRCh38.p7 | 10:13132510 | TTTGATTTTAAAATG[G/T]TGTGTTGTTTTGTTT | 10133 |
rs370943795 | in-del | -/TT | | | intron-variant | OPTN | GRCh38.p7 | 10:13115185 | TCTATATTTTATATA[-/TT]TATATTTATAGATAT | 10133 |
rs370979494 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | OPTN | GRCh38.p7 | 10:13105765 | AATACAAAAATTAGC[C/T]GGGTGTGGTAGCACA | 10133 |
rs370995597 | snp | C/T | | | intron-variant | OPTN | GRCh38.p7 | 10:13120939 | AAGGCACCTTCTTCA[C/T]AAGGTGGCAGAAAGG | 10133 |
rs371098766 | snp | A/C | | | intron-variant | OPTN | GRCh38.p7 | 10:13114993 | TATAGATATATCTAT[A/C]TTTATATATATTTAT | 10133 |
rs371135332 | snp | C/T | | | intron-variant | OPTN | GRCh38.p7 | 10:13116741 | ATTTTCTTTTCCCTG[C/T]TACTTCCCAGTTATA | 10133 |
rs371175316 | snp | C/G/T | 3.30132e-05 | 0.00406273 | intron-variant | OPTN | GRCh38.p7 | 10:13132242 | CTCACATCAGCATGG[C/G/T]CGTAGAAGAGGTGCC | 10133 |
rs371236630 | in-del | -/AG | | | intron-variant | OPTN | GRCh38.p7 | 10:13115252 | TATATATATCTATAT[-/AG]TTATATCTATATTTA | 10133 |
rs371298749 | snp | A/C/T | 0.000165526 | 0.00909601 | intron-variant | OPTN | GRCh38.p7 | 10:13133472 | GGGGTTGTAGAACAT[A/C/T]ACACAGCGTGTTGCT | 10133 |
rs371338705 | snp | A/T | | | intron-variant | OPTN | GRCh38.p7 | 10:13115253 | TATATATATCTATAT[A/T]TATATCTATATTTAT | 10133 |
rs371381918 | in-del | -/C | | | upstream-variant-2KB, intron-variant | OPTN, CCDC3 | GRCh38.p7 | 10:13098356 | AGTCTCCCTCTCACC[-/C]AAGCTGGAGTGCAGT | 10133 |
rs371393351 | snp | A/C | 0.00159617 | 0.0282053 | downstream-variant-500B | OPTN | GRCh38.p7 | 10:13138752 | GTTGGAAGAATTACA[A/C]ATGAAGGCCATTTCA | 10133 |
rs371470839 | snp | A/C/G | 0.000230804 | 0.0107402 | intron-variant | OPTN | GRCh38.p7 | 10:13127907 | CTCAGGGCTCAGGTG[A/C/G]GGCACCTTCCAAAAC | 10133 |
rs371605680 | snp | G/T | 0.000202368 | 0.010057 | intron-variant | OPTN | GRCh38.p7 | 10:13127734 | TTCTAGAATAAATGT[G/T]TCTTTTTCAGTCAGA | 10133 |
rs371677514 | snp | A/G | 0.00358779 | 0.0422022 | intron-variant | OPTN | GRCh38.p7 | 10:13102171 | GGAGCCAGACATTTC[A/G]GGCAGAGGGCAGAAG | 10133 |
rs371709299 | in-del | -/A | | | intron-variant | OPTN | GRCh38.p7 | 10:13114838 | ATATAATTATATAAT[-/A]TATATAATTGTATAA | 10133 |
rs371818491 | snp | G/T | | | intron-variant | OPTN | GRCh38.p7 | 10:13117430 | TCTTTTTTTTTTTTT[G/T]GAGATGGAGTTTTTT | 10133 |
rs371927112 | snp | A/C | 1.6693e-05 | 0.00288898 | missense | OPTN | GRCh38.p7 | 10:13110451 | AGCTTGGAAAACTAA[A/C]AGGGAAATCAGAAAG | 10133 |
rs371968390 | snp | A/T | | | intron-variant | OPTN | GRCh38.p7 | 10:13115243 | TAGATATATCTATAT[A/T]TATCTATATTTATAT | 10133 |
rs371986409 | in-del | -/TT | | | intron-variant | OPTN | GRCh38.p7 | 10:13114972 | CTATATTTATATATA[-/TT]TATATATAGATATAT | 10133 |
rs372030158 | snp | C/T | | | intron-variant | OPTN | GRCh38.p7 | 10:13108019 | CAAAACAAAATGATA[C/T]GTGTAAAAAAATTTC | 10133 |
rs372033295 | snp | C/T | 0.00318978 | 0.0398085 | upstream-variant-2KB, utr-variant-5-prime | OPTN, CCDC3 | GRCh38.p7 | 10:13099187 | TTGCTTGCTTCTCTG[C/T]CCTGCTCTTGGGGTT | 10133 |
rs372118360 | snp | A/G | 1.75075e-05 | 0.00295862 | intron-variant | OPTN | GRCh38.p7 | 10:13123986 | TGTTTGGGATTTCCC[A/G]TATGATAGGTTGGAA | 10133 |
rs372153843 | snp | C/T | | | utr-variant-3-prime | OPTN | GRCh38.p7 | 10:13137679 | TATGTTGTAGTTTTA[C/T]TGCAGCCACAATAAT | 10133 |
rs372211102 | snp | C/T | 0.00874735 | 0.0655527 | intron-variant | OPTN | GRCh38.p7 | 10:13117281 | GAGATGGGGTTTCAC[C/T]GTGTTAGCCAGGATG | 10133 |
rs372212201 | snp | G/T | 0.00279162 | 0.0372561 | intron-variant | OPTN | GRCh38.p7 | 10:13129291 | TTCTGGATTTTGTTC[G/T]ATTTTATTGGTCTAC | 10133 |
rs372321173 | snp | C/T | 0.00318978 | 0.0398085 | intron-variant | OPTN | GRCh38.p7 | 10:13111412 | TATGTCAAAATAAAT[C/T]GTGGGCTAGGCACGG | 10133 |
rs372406864 | in-del | -/TATA | 0.404035 | 0.196909 | intron-variant | OPTN | GRCh38.p7 | 10:13114996 | AGATATATCTATATT[-/TATA]TATATTTATATATAT | 10133 |
rs372418205 | snp | G/T | | | intron-variant | OPTN | GRCh38.p7 | 10:13102142 | GTCCAGTGGAAGTTT[G/T]CCAGGACACAAGGGG | 10133 |
rs372461087 | snp | A/G | | | intron-variant | OPTN | GRCh38.p7 | 10:13108902 | CACACACATGCACAC[A/G]TGCGCGTGCACACAC | 10133 |
rs372486382 | snp | C/T | 1.64746e-05 | 0.00287002 | synonymous-codon | OPTN | GRCh38.p7 | 10:13118979 | CAGCTCCTGCTGTGC[C/T]TAAGGGAAGGGAATC | 10133 |
rs372580800 | snp | C/T | | | intron-variant | OPTN | GRCh38.p7 | 10:13120081 | TCCGCCTCCCGGGTT[C/T]ACGCCATTCTCCTGC | 10133 |
rs372617115 | snp | C/G | | | intron-variant | OPTN | GRCh38.p7 | 10:13103747 | ACACACACATGCACA[C/G]ACACACACACACACA | 10133 |
rs372633068 | snp | C/T | 0.000153988 | 0.00877328 | synonymous-codon | OPTN | GRCh38.p7 | 10:13118915 | ATATAGGAGCAGATC[C/T]GCAGATGGGGCCAAG | 10133 |
rs372655210 | snp | A/T | | | intron-variant | OPTN | GRCh38.p7 | 10:13122951 | GAGTGCTGGGATTAC[A/T]GATATGAGCCACTGC | 10133 |
rs372680693 | snp | C/G | | | intron-variant, upstream-variant-2KB | OPTN, CCDC3 | GRCh38.p7 | 10:13101001 | GTAAGGCAATGTGAG[C/G]ACCTCAGAAGCCTTT | 10133 |
rs372714385 | snp | A/C/G | 0.000230726 | 0.0107385 | missense | OPTN | GRCh38.p7 | 10:13112487 | GGCTTCCCAGGGCCG[A/C/G]AGCGGAGCAGGAAAA | 10133 |
rs372773271 | snp | C/T | 6.67401e-05 | 0.00577629 | intron-variant | OPTN | GRCh38.p7 | 10:13109333 | TTCATCCTGGGCCTG[C/T]AAGAAATGCCATCCC | 10133 |
rs372820478 | snp | C/T | 0.000153988 | 0.00877328 | intron-variant | OPTN | GRCh38.p7 | 10:13132036 | GCATTCATCTAGGTA[C/T]TAACTTCTGTATCTT | 10133 |
rs372856656 | in-del | -/GG | | | intron-variant | OPTN | GRCh38.p7 | 10:13128535 | TTTTTTTTTTTTTTT[-/GG]TTTGGTTTGCCTGGC | 10133 |
rs372874196 | snp | A/T | 0.00795532 | 0.062565 | intron-variant | OPTN | GRCh38.p7 | 10:13132860 | AGAATAAAATAACAG[A/T]CTCTACTATGTACTC | 10133 |
rs372929163 | snp | A/T | | | intron-variant | OPTN | GRCh38.p7 | 10:13115221 | TATTTATATATATAT[A/T]TATATATAGATATAT | 10133 |
rs372959189 | snp | A/G | | | intron-variant | OPTN | GRCh38.p7 | 10:13122946 | TCCCAGAGTGCTGGG[A/G]TTACAGATATGAGCC | 10133 |
rs373014843 | snp | A/T | | | intron-variant | OPTN | GRCh38.p7 | 10:13135826 | GATATCCTAGTATTT[A/T]CTAGAACATGCATTG | 10133 |
rs373026863 | in-del | -/T | | | intron-variant | OPTN | GRCh38.p7 | 10:13115177 | ATAGATATATCTATA[-/T]TTTATATATATATTT | 10133 |
rs373081068 | snp | A/G/T | | | intron-variant | OPTN | GRCh38.p7 | 10:13114995 | TAGATATATCTATAT[A/G/T]TATATATATTTATAT | 10133 |
rs373222117 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | OPTN | GRCh38.p7 | 10:13116207 | TCTTTTTCTTCTTTT[A/G]ACAAAGAATTTGTCT | 10133 |
rs373243252 | in-del | -/GTT | | | intron-variant | OPTN | GRCh38.p7 | 10:13112424 | TTAGTTTGATCTGTT[-/GTT]CATTCACTTTACTCC | 10133 |
rs373361709 | in-del | -/AA | | | intron-variant | OPTN | GRCh38.p7 | 10:13115190 | ATTTTATATATATAT[-/AA]TTATAGATATATCTA | 10133 |
rs373392648 | snp | A/G | 8.3158e-05 | 0.00644764 | intron-variant | OPTN | GRCh38.p7 | 10:13125373 | AAAAGCCACTGCGAC[A/G]TAAAGGAGCATTGTT | 10133 |
rs373405178 | snp | A/T | 1.65899e-05 | 0.00288005 | intron-variant | OPTN | GRCh38.p7 | 10:13125402 | TTTATCCTCATGAAA[A/T]CTTGACCTTTCTTAG | 10133 |
rs373425395 | snp | A/G | 1.64732e-05 | 0.0028699 | missense | OPTN | GRCh38.p7 | 10:13132122 | CGAGAGAGAAAATTC[A/G]TGAGGAAAAGGAGCA | 10133 |
rs373568349 | snp | C/T | 6.74627e-05 | 0.00580748 | intron-variant | OPTN | GRCh38.p7 | 10:13116389 | CAGGCTGGGCAGGCT[C/T]GTCACTGGGTGCTTG | 10133 |
rs373577370 | snp | A/G | | | intron-variant | OPTN | GRCh38.p7 | 10:13115404 | ATAATAGATATATCT[A/G]TATTTATATTATAGA | 10133 |
rs373627758 | in-del | -/AT | | | intron-variant | OPTN | GRCh38.p7 | 10:13114813 | ATATACATATATATA[-/AT]TATATAATTATATAA | 10133 |
rs373632413 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | OPTN | GRCh38.p7 | 10:13132398 | TACACTTCATGTGAT[C/T]ATGTTCCCAACACTT | 10133 |
rs373699827 | snp | C/T | 0.000165931 | 0.00910703 | synonymous-codon | OPTN | GRCh38.p7 | 10:13116311 | AATCAAGCATAGTCC[C/T]GGGCCCACGAGAACA | 10133 |
rs373818569 | snp | C/T | | | intron-variant | OPTN | GRCh38.p7 | 10:13114803 | ATATAATTATATATA[C/T]ATATATATAATTATA | 10133 |
rs373873655 | snp | C/G | 6.59022e-05 | 0.00573993 | utr-variant-3-prime | OPTN | GRCh38.p7 | 10:13136892 | ATCACCTCCCCAAAA[C/G]TGTTGGTAAATGTCA | 10133 |
rs373912708 | snp | A/G | 1.64912e-05 | 0.00287147 | intron-variant | OPTN | GRCh38.p7 | 10:13127934 | AAACCCCAGCTGAGC[A/G]AGGCCAGCCCTGACT | 10133 |
rs373932639 | in-del | -/TATG | | | intron-variant | OPTN | GRCh38.p7 | 10:13115058 | ATATAGATATATCTA[-/TATG]TATATATATTTATAT | 10133 |
rs373950061 | snp | A/T | | | upstream-variant-2KB, intron-variant | OPTN, CCDC3 | GRCh38.p7 | 10:13098450 | TCCCAAAGTGCTGGG[A/T]TTACAGGTGTGAGCC | 10133 |
rs373975239 | snp | A/G | | | intron-variant | OPTN | GRCh38.p7 | 10:13108910 | TGCACACATGCGCGT[A/G]CACACACACACACAC | 10133 |
rs373981784 | snp | C/T | 8.24409e-05 | 0.00641979 | intron-variant | OPTN | GRCh38.p7 | 10:13133499 | TGCTTTTCGTCCTGG[C/T]AGGCAGTCCTTGATG | 10133 |
rs373988256 | snp | A/T | | | intron-variant | OPTN | GRCh38.p7 | 10:13115042 | ATTTATATATTTTTA[A/T]ATATAGATATATCTA | 10133 |
rs374031054 | snp | C/T | | | intron-variant | OPTN | GRCh38.p7 | 10:13135096 | ATACATGTTACTACA[C/T]CCAAGTAATGTACTT | 10133 |
rs374052143 | snp | C/T | | | intron-variant | OPTN | GRCh38.p7 | 10:13120131 | GGGACTACAGGCGCC[C/T]GCCACCACGCCCGGC | 10133 |
rs374055453 | snp | C/G | 1.65304e-05 | 0.00287488 | missense | OPTN | GRCh38.p7 | 10:13109193 | GCACAGGAAATGGAC[C/G]CCCCCACCTGGCCCA | 10133 |
rs374082766 | in-del | -/T | | | intron-variant | OPTN | GRCh38.p7 | 10:13111845 | TTTGTTTTTTGACTG[-/T]TTTTTTTTTTTTTTT | 10133 |
rs374141092 | snp | C/T | | | intron-variant | OPTN | GRCh38.p7 | 10:13117814 | GAATGACTTACAAAA[C/T]GTGAAAAAAATTGTC | 10133 |
rs374144660 | snp | A/G | 3.38536e-05 | 0.00411408 | intron-variant | OPTN | GRCh38.p7 | 10:13127732 | ATTTCTAGAATAAAT[A/G]TTTCTTTTTCAGTCA | 10133 |
rs374183218 | in-del | -/AT | | | intron-variant | OPTN | GRCh38.p7 | 10:13115471 | ATTATATAATATAGA[-/AT]ATATATAATATATTC | 10133 |
rs374267986 | snp | C/G/T | 6.91185e-05 | 0.00587836 | intron-variant | OPTN | GRCh38.p7 | 10:13110487 | CTGAGGTGAGCAGAC[C/G/T]GATCCATTGTGATGT | 10133 |
rs374301335 | snp | C/T | | | intron-variant | OPTN | GRCh38.p7 | 10:13103741 | GTATATACACACACA[C/T]GCACACACACACACA | 10133 |
rs374302388 | in-del | -/AG | 0.000214226 | 0.0103473 | intron-variant | OPTN | GRCh38.p7 | 10:13132207 | AGGCAGGTAAGGAAA[-/AG]AGAGAGGAGGACCCA | 10133 |
rs374391894 | snp | A/C/T | | | upstream-variant-2KB, intron-variant | OPTN, CCDC3 | GRCh38.p7 | 10:13098943 | GCTGGTCTCGAACTC[A/C/T]GGACCTTGCGATCTG | 10133 |
rs374395300 | snp | C/T | | | intron-variant | OPTN | GRCh38.p7 | 10:13136378 | CTGGGCGTGGTGGCG[C/T]GCACCTGTGATCCCA | 10133 |
rs374539435 | snp | A/G | 0.000798403 | 0.0199641 | intron-variant | OPTN | GRCh38.p7 | 10:13111511 | GAGACCAGCCTGGCC[A/G]ACATGGCGAAACCCC | 10133 |
rs374628173 | snp | C/T | | | intron-variant | OPTN | GRCh38.p7 | 10:13112100 | ATGATCCGCCCACCT[C/T]GGCCTCCCAAAGTGC | 10133 |
rs374629920 | snp | A/G | | | intron-variant | OPTN | GRCh38.p7 | 10:13114678 | TTTTTTATAATAGAT[A/G]TATCTGTATTTATAT | 10133 |
rs374635994 | snp | C/T | | | intron-variant | OPTN | GRCh38.p7 | 10:13128575 | TGAGACAGAGTCTTG[C/T]TCTGTCGCCCAGGCT | 10133 |
rs374641005 | snp | G/T | 1.64906e-05 | 0.00287142 | missense | OPTN | GRCh38.p7 | 10:13133572 | CAGCAGGCTTACCTT[G/T]TTCAAAGAGGTGAGT | 10133 |
rs374808251 | snp | G/T | | | intron-variant | OPTN | GRCh38.p7 | 10:13115264 | ATATTTATATCTATA[G/T]TTATATAATGAATAC | 10133 |
rs374859795 | snp | C/G | | | utr-variant-3-prime | OPTN | GRCh38.p7 | 10:13136938 | GAGTTGTGCTTTTGT[C/G]TTATTTGTTTTCACT | 10133 |
rs374980487 | in-del | -/TT | | | intron-variant | OPTN | GRCh38.p7 | 10:13115241 | ATAGATATATCTATA[-/TT]TATATCTATATTTAT | 10133 |
rs375004000 | snp | A/G | | | intron-variant | OPTN | GRCh38.p7 | 10:13106284 | TAAAACCCTATTTTA[A/G]TGAGATGATTCTGGG | 10133 |
rs375039825 | snp | A/G | | | intron-variant | OPTN | GRCh38.p7 | 10:13127644 | GAGCCACCACACCCG[A/G]CCAGAGCTGATAATT | 10133 |
rs375104174 | snp | A/G | | | intron-variant | OPTN | GRCh38.p7 | 10:13117432 | TTTTTTTTTTTTTTG[A/G]GATGGAGTTTTTTTT | 10133 |
rs375291620 | snp | C/T | | | intron-variant | OPTN | GRCh38.p7 | 10:13126587 | GCCCGGCCAGCACTT[C/T]GTATTTCTAAGGATA | 10133 |
rs375309307 | snp | A/T | | | intron-variant | OPTN | GRCh38.p7 | 10:13115246 | ATATATCTATATATA[A/T]CTATATTTATATCTA | 10133 |
rs375327512 | in-del | -/TGCA | | | intron-variant | OPTN | GRCh38.p7 | 10:13114759 | CTACAATTATATAAT[-/TGCA]TATATAATTATATAA | 10133 |
rs375386116 | snp | C/T | | | intron-variant | OPTN | GRCh38.p7 | 10:13123415 | GTCAGGAGACTGAGA[C/T]CTTACTGTTGAAAGA | 10133 |
rs375398306 | snp | C/T | 1.64887e-05 | 0.00287125 | intron-variant | OPTN | GRCh38.p7 | 10:13127912 | GGCTCAGGTGAGGCA[C/T]CTTCCAAAACCCCAG | 10133 |
rs375434295 | snp | A/T | | | intron-variant | OPTN | GRCh38.p7 | 10:13115190 | TATTTTATATATATA[A/T]TTATAGATATATCTA | 10133 |
rs375515746 | snp | C/G | | | intron-variant | OPTN | GRCh38.p7 | 10:13121018 | TCATGAGAACTCACT[C/G]ACTATCACGAGAACA | 10133 |
rs375524946 | snp | A/G | 3.32005e-05 | 0.00407421 | intron-variant | OPTN | GRCh38.p7 | 10:13109310 | AGGGCTGGCCCCTGT[A/G]TGCCCCATTCATCCT | 10133 |
rs375532952 | snp | A/G | | | utr-variant-3-prime | OPTN | GRCh38.p7 | 10:13137129 | ACCAAAATTACAAAA[A/G]TTAGCCGAGCATGGT | 10133 |
rs375659935 | snp | A/C | | | intron-variant | OPTN | GRCh38.p7 | 10:13115237 | TATATATAGATATAT[A/C]TATATATATCTATAT | 10133 |
rs375676837 | snp | C/T | | | intron-variant | OPTN | GRCh38.p7 | 10:13136679 | AACTCGCCATCTGTT[C/T]TTCAAGTGAAACAAA | 10133 |
rs375716894 | snp | A/C | | | intron-variant | OPTN | GRCh38.p7 | 10:13109834 | AGAGAGACCCTGACT[A/C]AAAAAAAAAAAAAAA | 10133 |
rs375740231 | snp | A/G | | | intron-variant | OPTN | GRCh38.p7 | 10:13109650 | GGGCAAGATGGCAAG[A/G]CCTGATCTCTACAAA | 10133 |
rs375775286 | snp | A/G | 0.000798403 | 0.0199641 | intron-variant | OPTN | GRCh38.p7 | 10:13136377 | GCTGGGCGTGGTGGC[A/G]CGCACCTGTGATCCC | 10133 |
rs375778131 | in-del | -/TA | 0.357664 | 0.225629 | intron-variant | OPTN | GRCh38.p7 | 10:13115210 | AGATATATCTATATT[-/TA]TATATATATTTATAT | 10133 |
rs375833288 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | OPTN | GRCh38.p7 | 10:13135512 | CCTTCCCTTTCTCCC[A/G]TGGACACCCTTGCAC | 10133 |
rs375860150 | snp | A/T | 7.17231e-05 | 0.00598802 | intron-variant | OPTN | GRCh38.p7 | 10:13124141 | CAATTTTATCCTCCT[A/T]TGAAATATACATTTT | 10133 |
rs375879306 | snp | A/G | 0.00199481 | 0.0315187 | intron-variant | OPTN | GRCh38.p7 | 10:13105909 | GTGAGACTCTGTCTG[A/G]AAAAAAAAAAAAAGT | 10133 |
rs375956565 | snp | C/T | | | intron-variant | OPTN | GRCh38.p7 | 10:13117116 | GACGGAATCTTGTTC[C/T]GTTGCCCAGGCTGGA | 10133 |
rs375962692 | snp | C/T | | | intron-variant | OPTN | GRCh38.p7 | 10:13131897 | GCTTGTATCTGCTAT[C/T]GGAATGTACCTGGAA | 10133 |
rs376024431 | snp | C/T | | | missense | OPTN | GRCh38.p7 | 10:13124049 | TCTCTGTTTAAGGAG[C/T]TTCAAGAGGCTCATA | 10133 |
rs376026903 | snp | C/T | 0.000307953 | 0.0124049 | missense | OPTN | GRCh38.p7 | 10:13125555 | TGGAACAGGCTAAAA[C/T]AGAGGATGAAAAGTG | 10133 |
rs376057320 | snp | A/G | 1.64958e-05 | 0.00287187 | synonymous-codon | OPTN | GRCh38.p7 | 10:13125496 | TGTTTATACTAACAA[A/G]AAGTTAGAGCTACAA | 10133 |
rs376112315 | snp | A/G/T | | | intron-variant | OPTN | GRCh38.p7 | 10:13115505 | TATTATATAATATAG[A/G/T]ATATATATAATATAT | 10133 |
rs376146076 | snp | C/T | | | intron-variant | OPTN | GRCh38.p7 | 10:13132283 | CGTTCCTGATTTGAA[C/T]TATAAGAATAGCTGT | 10133 |
rs376178813 | snp | A/G | 3.29484e-05 | 0.00405871 | synonymous-codon | OPTN | GRCh38.p7 | 10:13118924 | CAGATCTGCAGATGG[A/G]GCCAAGAATTACTTC | 10133 |
rs376230975 | snp | C/T | 3.34868e-05 | 0.00409173 | intron-variant | OPTN | GRCh38.p7 | 10:13109072 | GGACCCCTTGTGGGG[C/T]GGGGGACAGCTCTAT | 10133 |
rs376252629 | snp | A/G | 0.000153988 | 0.00877328 | missense | OPTN | GRCh38.p7 | 10:13127760 | TCAGAAAAAGTGGAC[A/G]GGGCAGTGCTGAAGG | 10133 |
rs376308304 | snp | A/T | | | intron-variant | OPTN | GRCh38.p7 | 10:13115005 | TATATTTATATATAT[A/T]TATATATATAGATAT | 10133 |
rs376359603 | snp | A/G | 0.00279162 | 0.0372561 | upstream-variant-2KB, utr-variant-5-prime | OPTN, CCDC3 | GRCh38.p7 | 10:13099261 | GGAGGTCCAGACAGC[A/G]AAGCAGAATCCTTCG | 10133 |
rs376464601 | snp | C/G | | | intron-variant | OPTN | GRCh38.p7 | 10:13118459 | TTAAGCTGTGATGGT[C/G]TCTGTTAACTTGGAG | 10133 |
rs376464643 | in-del | -/AC | | | intron-variant | OPTN | GRCh38.p7 | 10:13114996 | GATATATCTATATTT[-/AC]ATATATATTTATATA | 10133 |
rs376464767 | snp | A/G | | | intron-variant | OPTN | GRCh38.p7 | 10:13134077 | GTCTCCCAAAGTACC[A/G]GGATTACAGGCGCAA | 10133 |
rs376676766 | snp | A/G | 1.66779e-05 | 0.00288768 | intron-variant | OPTN | GRCh38.p7 | 10:13136698 | AAGTGAAACAAACAC[A/G]ACTGCCTGCAAAATG | 10133 |
rs376727030 | snp | A/G | | | intron-variant | OPTN | GRCh38.p7 | 10:13129624 | CGGGCGTGAGCCACC[A/G]TGCCTGGCCAGCATC | 10133 |
rs376735230 | in-del | -/AA | | | intron-variant | OPTN | GRCh38.p7 | 10:13114976 | TTTATATATATTTAT[-/AA]ATATAGATATATCTA | 10133 |
rs376758609 | snp | C/G | | | intron-variant | OPTN | GRCh38.p7 | 10:13120039 | CCAGGCTGGAGTGCA[C/G]TGGCGCAATCTCGGC | 10133 |
rs376795983 | snp | C/G | 0.000798403 | 0.0199641 | upstream-variant-2KB, utr-variant-5-prime | OPTN, CCDC3 | GRCh38.p7 | 10:13099768 | GCCTGGCATTCTCCT[C/G]TTTCTGTGGGCGGCA | 10133 |
rs376803312 | snp | C/G | | | utr-variant-3-prime | OPTN | GRCh38.p7 | 10:13137820 | CATTCACAGTGTAAA[C/G]AAGTTACCTTCATGC | 10133 |