SNP - dbSNP |
dbSNP | Type | Alleles | Het | Se(het) | Fxn-class | Gene Name | Assembly | Chr-pos | Sequence | Entrez Gene |
rs15186 | snp | A/T | 0 | 0 | synonymous-codon, utr-variant-3-prime, intron-variant, downstream-variant-500B | ALKBH2, USP30 | GRCh38.p7 | 12:109088278 | CTTCTTTCTCACGGG[A/T]AGACTGTGGTACCAG | 84749 |
rs706493 | snp | A/G | 0.000164954 | 0.00908018 | synonymous-codon, utr-variant-3-prime, intron-variant, downstream-variant-500B | ALKBH2, USP30 | GRCh38.p7 | 12:109088296 | CCACCCGACCAACAC[A/G]CACTGGTACCACAGT | 84749 |
rs1059257 | snp | A/G | 0.257454 | 0.249889 | utr-variant-3-prime | USP30 | GRCh38.p7 | 12:109087634 | TACTGCAAAGCTGTA[A/G]CTTTAAGTAATTGCT | 84749 |
rs1059262 | snp | G/T | 0.306431 | 0.243548 | intron-variant, utr-variant-3-prime, downstream-variant-500B | ALKBH2, USP30 | GRCh38.p7 | 12:109087930 | TTAAACTAGTAGTTT[G/T]GCCATAATAACTGCT | 84749 |
rs1368556 | snp | C/T | 0.36315 | 0.222928 | intron-variant | USP30 | GRCh38.p7 | 12:109032515 | AGAACCTTAAGAACA[C/T]TGTGTTAGGTGAAAC | 84749 |
rs1433314 | snp | A/C | 0.36315 | 0.222928 | intron-variant | USP30 | GRCh38.p7 | 12:109031449 | GACAGTTTCTTTAAA[A/C]GTTAAACATAGAATT | 84749 |
rs1433315 | snp | A/T | 0.36315 | 0.222928 | intron-variant | USP30 | GRCh38.p7 | 12:109031501 | TTCCACTCCTAGGTA[A/T]ATACAAAAAGAATTA | 84749 |
rs1433316 | snp | A/T | 0.156319 | 0.231784 | intron-variant | USP30 | GRCh38.p7 | 12:109034163 | CCACAATATTGTGAC[A/T]TGTACCTCGTGTTTT | 84749 |
rs1433317 | snp | C/T | 0.494187 | 0.0535994 | intron-variant | USP30 | GRCh38.p7 | 12:109034171 | TTGTGACTTGTACCT[C/T]GTGTTTTTATTTTTA | 84749 |
rs1982093 | snp | G/T | 0 | 0 | intron-variant | USP30 | GRCh38.p7 | 12:109071103 | AGAGATAAAGAATGG[G/T]GGGTGCCAGGGGTTG | 84749 |
rs2018290 | snp | A/C | 0.455621 | 0.142197 | intron-variant | USP30 | GRCh38.p7 | 12:109030698 | cttggctcactgcaa[A/C]ctctgcctcccaggt | 84749 |
rs2304266 | snp | C/T | 0.294832 | 0.245947 | intron-variant, utr-variant-5-prime, nc-transcript-variant, upstream-variant-2KB | USP30, USP30-AS1 | GRCh38.p7 | 12:109052596 | CGCAGGTTCCGCTGT[C/T]TCGGGAACCGTCGTA | 84749 |
rs2304267 | snp | C/T | 0.313767 | 0.241731 | intron-variant, upstream-variant-2KB | USP30, USP30-AS1 | GRCh38.p7 | 12:109052796 | GGCTGCCGAAGAGGC[C/T]GGGACCAGGGTCCCC | 84749 |
rs3217401 | in-del | -/CGG | | | intron-variant, cds-indel, nc-transcript-variant, upstream-variant-2KB | USP30, USP30-AS1 | GRCh38.p7 | 12:109052637 | CGGCGGCGGCGGCGG[-/CGG]TAGCGGAGGAGACGG | 84749 |
rs3742028 | snp | A/G | 0.496382 | 0.0423778 | intron-variant, upstream-variant-2KB | USP30, USP30-AS1 | GRCh38.p7 | 12:109053663 | CCCATTCCGTAGATA[A/G]GAAGTGTGGCCCCAT | 84749 |
rs3742029 | snp | A/G | 0.0584853 | 0.160693 | utr-variant-3-prime | USP30 | GRCh38.p7 | 12:109086427 | CACGTCCATTGTGAA[A/G]TATTCCTTCCAGGCT | 84749 |
rs4296113 | snp | C/T | 0.358303 | 0.225323 | intron-variant | USP30 | GRCh38.p7 | 12:109036454 | tacaggtgtgaacca[C/T]gcccagctaattttt | 84749 |
rs4309234 | snp | C/T | 0.239037 | 0.24976 | intron-variant | USP30 | GRCh38.p7 | 12:109037899 | gccttctcaggttta[C/T]cctgagcatgtagag | 84749 |
rs4388979 | snp | G/T | 0.483563 | 0.0891524 | intron-variant | USP30 | GRCh38.p7 | 12:109037207 | tctgctgttgtgctc[G/T]ctagtgaatttttca | 84749 |
rs6606733 | snp | A/G | 0.232943 | 0.249417 | intron-variant | USP30 | GRCh38.p7 | 12:109050426 | CAATCCTTTTTAAGC[A/G]TACAAAGAGATCCGG | 84749 |
rs6606735 | snp | C/T | 0.456685 | 0.140646 | intron-variant, upstream-variant-2KB, downstream-variant-500B | USP30, USP30-AS1 | GRCh38.p7 | 12:109051638 | gcagtggcatgatct[C/T]ggctcagtgcaacct | 84749 |
rs6606740 | snp | A/G | 0.381113 | 0.21286 | intron-variant | USP30 | GRCh38.p7 | 12:109075350 | ggcaacacttgttac[A/G]tgctgtctttttttt | 84749 |
rs7135644 | snp | A/G | 0.252421 | 0.249988 | intron-variant | USP30 | GRCh38.p7 | 12:109038183 | ccgacccctccaaag[A/G]ccccagtgtatgttg | 84749 |
rs7137083 | snp | A/G | 0.295088 | 0.245901 | intron-variant | USP30 | GRCh38.p7 | 12:109056091 | TTCCATGTGGAAGTG[A/G]AGTGAGAGGCAGAAA | 84749 |
rs7138838 | snp | C/T | 0.252702 | 0.249985 | intron-variant | USP30 | GRCh38.p7 | 12:109038211 | ttggttcccgccccc[C/T]tccccacctgccagt | 84749 |
rs7296509 | snp | C/T | 0.306927 | 0.243432 | intron-variant | USP30 | GRCh38.p7 | 12:109084607 | CAGCCAAAACCATCA[C/T]GGTGCTGCTGTTGAG | 84749 |
rs7302579 | snp | A/T | 0.306679 | 0.24349 | intron-variant | USP30 | GRCh38.p7 | 12:109060875 | gctctcgaactcctg[A/T]cctcaagtggtgcac | 84749 |
rs7307927 | snp | C/T | 0.286042 | 0.247388 | intron-variant | USP30 | GRCh38.p7 | 12:109058989 | atagcttgcgaaata[C/T]tcagtactgtttgac | 84749 |
rs7316006 | snp | A/T | 0 | 0 | intron-variant | USP30 | GRCh38.p7 | 12:109063903 | tttttttttgagaag[A/T]cagtctgttgccagg | 84749 |
rs7316260 | snp | C/T | 0.310386 | 0.242597 | intron-variant | USP30 | GRCh38.p7 | 12:109060865 | tcaccaggctgctct[C/T]gaactcctgacctca | 84749 |
rs7485962 | snp | A/T | | | intron-variant, upstream-variant-2KB, utr-variant-5-prime | USP30, USP30-AS1 | GRCh38.p7 | 12:109054539 | tgtctcaaaaaaaaa[A/T]aaaaataaaaataag | 84749 |
rs7955458 | snp | C/T | 0.251578 | 0.249995 | utr-variant-5-prime | USP30 | GRCh38.p7 | 12:109047643 | CAAGCTCTGCATATT[C/T]GAAGTGTTGCAAACT | 84749 |
rs7957021 | snp | A/G | 0.262159 | 0.249704 | intron-variant | USP30 | GRCh38.p7 | 12:109075764 | ccttttcatataccc[A/G]ctggccatttgtatg | 84749 |
rs7961606 | snp | C/T | 0.0685596 | 0.171987 | intron-variant | USP30 | GRCh38.p7 | 12:109080928 | tgtaagcgcgctctg[C/T]gatgtttacacaatg | 84749 |
rs7961975 | snp | C/T | 0.232943 | 0.249417 | intron-variant, upstream-variant-2KB | USP30 | GRCh38.p7 | 12:109051106 | atgttgcccaggtgg[C/T]cttggactctgggcc | 84749 |
rs7963952 | snp | G/T | 0.0138799 | 0.0821421 | intron-variant | USP30 | GRCh38.p7 | 12:109036810 | gtcagtcttattaag[G/T]ataccttttatgtga | 84749 |
rs7965921 | snp | A/G | 0.361684 | 0.223667 | intron-variant | USP30 | GRCh38.p7 | 12:109078556 | GTGAGCCGAGATCAC[A/G]CCACTGCATGCCAGC | 84749 |
rs7965956 | snp | C/T | | | intron-variant, upstream-variant-2KB | USP30, USP30-AS1 | GRCh38.p7 | 12:109055395 | atatatatatatata[C/T]atatatttttttttt | 84749 |
rs7967169 | snp | C/G | 0.323671 | 0.238899 | intron-variant | USP30 | GRCh38.p7 | 12:109032690 | TGCTAATACATATGA[C/G]GACTCTTTTAGAAGG | 84749 |
rs7967182 | snp | C/T | 0.141596 | 0.225274 | intron-variant | USP30 | GRCh38.p7 | 12:109073339 | AAGAATATTTTTTCT[C/T]AAGAGGTAGTTTCTA | 84749 |
rs7967285 | snp | C/T | 0.0023933 | 0.0345097 | intron-variant | USP30 | GRCh38.p7 | 12:109040081 | ATTGTTTTTTTTCTA[C/T]ATGTGAAAACAGTTT | 84749 |
rs7967322 | snp | C/T | 0.271943 | 0.249035 | synonymous-codon | USP30 | GRCh38.p7 | 12:109073451 | AGGGTCACCTCACCC[C/T]ACATCCAATCACTGG | 84749 |
rs7970728 | snp | C/G | 0.0744748 | 0.178019 | intron-variant, upstream-variant-2KB | USP30 | GRCh38.p7 | 12:109046526 | aatttaaatgttaat[C/G]tcatccaaaaaccat | 84749 |
rs7972579 | snp | G/T | 0.0726307 | 0.176182 | intron-variant | USP30 | GRCh38.p7 | 12:109034966 | ggttgctgtttgaat[G/T]ataccactttttcca | 84749 |
rs7973633 | snp | C/T | 0.0836354 | 0.186609 | intron-variant | USP30 | GRCh38.p7 | 12:109027073 | catatacatttgggg[C/T]ggacacaaacattca | 84749 |
rs7978342 | snp | C/T | 0.587129 | 0.156226 | intron-variant | USP30 | GRCh38.p7 | 12:109078285 | AAAAATTAGCTGGGC[C/T]TGGTGGCGGGCGTCT | 84749 |
rs7979475 | snp | C/T | 0.247905 | 0.249991 | intron-variant, upstream-variant-2KB | USP30 | GRCh38.p7 | 12:109046401 | tacgggcgtgagcca[C/T]tgcacccagcccagt | 84749 |
rs9668445 | snp | C/T | | | intron-variant, upstream-variant-2KB | USP30, USP30-AS1 | GRCh38.p7 | 12:109055379 | ACACACATATATATA[C/T]ATATATATATATATA | 84749 |
rs9668456 | snp | C/T | 0.498774 | 0.02473 | intron-variant, upstream-variant-2KB | USP30, USP30-AS1 | GRCh38.p7 | 12:109055623 | CAGGCTGGTCTCCCA[C/T]TGACCTCAGGTGATC | 84749 |
rs10525667 | snp | A/T | | | intron-variant, upstream-variant-2KB | USP30, USP30-AS1 | GRCh38.p7 | 12:109055402 | tatatatatatatat[A/T]ttttttttttttttt | 84749 |
rs10582659 | in-del | -/ACAC | 0.0905309 | 0.192535 | intron-variant | USP30 | GRCh38.p7 | 12:109081605 | TTTGGCTTTTTGAAT[-/ACAC]ACGCACGCATGCGCG | 84749 |
rs10774646 | snp | A/G | 0.491104 | 0.0660973 | upstream-variant-2KB | USP30, SVOP | GRCh38.p7 | 12:109022236 | ATGAAAAGAAAAGCT[A/G]GAAAATTATACAACA | 84749 |
rs10774647 | snp | A/G | 0.490997 | 0.0664859 | upstream-variant-2KB | USP30, SVOP | GRCh38.p7 | 12:109022306 | GCTATGAGAATGACC[A/G]TTGAATGGACACTTA | 84749 |
rs10774825 | snp | A/G | 0.232359 | 0.249377 | intron-variant | USP30 | GRCh38.p7 | 12:109058369 | AGGTCAGGAGTTCGA[A/G]ACCAGCCTGACCAAC | 84749 |
rs10774928 | snp | C/T | 0.495445 | 0.0475058 | intron-variant | USP30 | GRCh38.p7 | 12:109077137 | TGATTTGCTAATATT[C/T]CCTAAAGGATATTAG | 84749 |
rs10774961 | snp | A/G | 0.499234 | 0.0195537 | intron-variant | USP30 | GRCh38.p7 | 12:109080328 | GGAAAAAAAGCCACA[A/G]ACACACAAATCTCGC | 84749 |
rs10850069 | snp | C/G | 0.359862 | 0.224567 | intron-variant | USP30 | GRCh38.p7 | 12:109028863 | ATGAAGGATCCACCC[C/G]CATGATCCAAACACC | 84749 |
rs10850309 | snp | A/G | 0.252702 | 0.249985 | intron-variant | USP30 | GRCh38.p7 | 12:109045226 | TCGGGTGATCCACCC[A/G]CCTCGGCCTCCCAAA | 84749 |
rs10850337 | snp | G/T | 0.498794 | 0.0245311 | intron-variant, upstream-variant-2KB | USP30 | GRCh38.p7 | 12:109046321 | CGTTTCACCATGTTG[G/T]CCAGGATGGTCTCGA | 84749 |
rs10850362 | snp | A/G | 0.495671 | 0.0463237 | intron-variant | USP30 | GRCh38.p7 | 12:109048784 | AAAGAAAAACCGGAT[A/G]TAAAACAGTTTATTC | 84749 |
rs10850589 | snp | C/T | 0.496937 | 0.0390173 | intron-variant | USP30 | GRCh38.p7 | 12:109061685 | agagtgctgggattg[C/T]ggacatgagccacca | 84749 |
rs10850688 | snp | A/G | 0.166832 | 0.235761 | intron-variant | USP30 | GRCh38.p7 | 12:109068664 | CTTGGAGATTTAGTC[A/G]CCAAGGACATCAGAT | 84749 |
rs10850717 | snp | G/T | 0.25912 | 0.249834 | intron-variant | USP30 | GRCh38.p7 | 12:109070043 | TGCAGGGACTAGGAG[G/T]CTGCGGGCGGCATCA | 84749 |
rs10850840 | snp | G/T | 0.348555 | 0.229754 | intron-variant | USP30 | GRCh38.p7 | 12:109077825 | CTTGTGTGTTTGTGT[G/T]GGGGGGGGAGGGTGT | 84749 |
rs11066507 | snp | C/T | 0.34989 | 0.229177 | intron-variant | USP30 | GRCh38.p7 | 12:109034106 | ACAAAAACAGCTCAA[C/T]GTGTCTGAGTCGTTG | 84749 |
rs11066540 | snp | A/G | 0.0193772 | 0.0965046 | intron-variant | USP30 | GRCh38.p7 | 12:109035605 | TTGGCCTAGTGATCC[A/G]CCCACCTCGGCCTCC | 84749 |
rs11066775 | snp | A/C | 0.0923359 | 0.194016 | intron-variant | USP30 | GRCh38.p7 | 12:109040510 | tatcccacacagttt[A/C]tgtgagtcaggaatc | 84749 |
rs11066777 | snp | C/T | 0.216048 | 0.247684 | intron-variant | USP30 | GRCh38.p7 | 12:109040547 | GAGCAGCTGAGTTGG[C/T]TGGCTATTGCTCAGG | 84749 |
rs11066984 | snp | C/T | 0.00835141 | 0.0640778 | intron-variant | USP30 | GRCh38.p7 | 12:109044258 | GGTACAGAATTTTAG[C/T]TTTGCAGATGGAGAG | 84749 |
rs11067125 | snp | A/C/G | 0.000798403 | 0.0199641 | intron-variant, upstream-variant-2KB | USP30 | GRCh38.p7 | 12:109046854 | GGTGTGCGCCATCAT[A/C/G]CCCAGCTAATTTTTG | 84749 |
rs11067210 | snp | A/G/T | 0.0058479 | 0.0537564 | intron-variant | USP30 | GRCh38.p7 | 12:109048438 | CATCAGTGATTGCCA[A/G/T]GGGTTGAAGGGGGGT | 84749 |
rs11067292 | snp | A/G | 0.498611 | 0.0263212 | intron-variant | USP30 | GRCh38.p7 | 12:109050017 | caagatatgccGggc[A/G]gggcacggtggctca | 84749 |
rs11067385 | snp | A/G | 0.0104769 | 0.0716149 | intron-variant, missense, nc-transcript-variant, utr-variant-5-prime, upstream-variant-2KB | USP30, USP30-AS1 | GRCh38.p7 | 12:109052697 | CTGAGCTCCCGGGCC[A/G]AGGCGGCGATGACCG | 84749 |
rs11067924 | snp | C/T | 0.00438332 | 0.0466095 | intron-variant | USP30 | GRCh38.p7 | 12:109063773 | TTTGCATTTCCCTAA[C/T]GATAAGTTATATTGA | 84749 |
rs11068203 | snp | A/G | 0.0130921 | 0.0798413 | intron-variant | USP30 | GRCh38.p7 | 12:109070677 | CTGTGTTGTGACCCC[A/G]TTACTCCCGGAAGAG | 84749 |
rs11068498 | snp | A/G | 0.0558544 | 0.157504 | intron-variant | USP30 | GRCh38.p7 | 12:109076793 | CTGGAGTGCAGTGGC[A/G]TGATCTCGGCTCACT | 84749 |
rs11068637 | snp | C/T | 0.0444908 | 0.142359 | intron-variant | USP30 | GRCh38.p7 | 12:109079339 | TTTTCTTTTCTTTTT[C/T]TTTTTTTTTTTCTTT | 84749 |
rs11068749 | snp | A/G | 0.430732 | 0.172731 | intron-variant | USP30 | GRCh38.p7 | 12:109081625 | CGCACGCATGCGCGC[A/G]CACACACACACACAC | 84749 |
rs11068750 | snp | A/G | 0.5 | 0 | intron-variant | USP30 | GRCh38.p7 | 12:109081627 | CACGCATGCGCGCAC[A/G]CACACACACACACAC | 84749 |
rs11351379 | in-del | -/T | 0.236724 | 0.249647 | intron-variant, upstream-variant-2KB | USP30 | GRCh38.p7 | 12:109047170 | ACAGAGGTGGATGCA[-/T]TTTTTTTTTTTAACC | 84749 |
rs11611432 | snp | G/T | | | intron-variant, upstream-variant-2KB | USP30, USP30-AS1 | GRCh38.p7 | 12:109055460 | caggctggagtgcag[G/T]ggcgcaatctgggct | 84749 |
rs11611623 | snp | G/T | | | intron-variant | USP30 | GRCh38.p7 | 12:109080621 | tagtgtttcattctg[G/T]ggacatgccatataa | 84749 |
rs11829521 | snp | A/C | 0.0718919 | 0.175435 | intron-variant | USP30 | GRCh38.p7 | 12:109043597 | tgggtaaataccaaa[A/C]tgcaagacctaaaat | 84749 |
rs11830671 | snp | A/C | 0.00716266 | 0.059414 | intron-variant, upstream-variant-2KB, utr-variant-5-prime | USP30, USP30-AS1 | GRCh38.p7 | 12:109054677 | atttaatcctcacaa[A/C]agccctatgaggtag | 84749 |
rs11832964 | snp | C/G | | | intron-variant, upstream-variant-2KB | USP30 | GRCh38.p7 | 12:109046195 | aacctccgccccccc[C/G]ggtttaagtgattcc | 84749 |
rs11836795 | snp | C/G | 0.00716266 | 0.059414 | utr-variant-3-prime | USP30 | GRCh38.p7 | 12:109087500 | TGCAAGGGGCAGCTT[C/G]AACTGTACGGTCCGT | 84749 |
rs11837724 | snp | A/T | 0.100231 | 0.200173 | intron-variant | USP30 | GRCh38.p7 | 12:109043615 | caagacctaaaatga[A/T]aaaactcttggaaaa | 84749 |
rs12229459 | snp | A/G | 0.00279162 | 0.0372561 | intron-variant | USP30 | GRCh38.p7 | 12:109076893 | cccgccaccacgccc[A/G]gctaattttttgtat | 84749 |
rs12306731 | snp | C/T | | | intron-variant, upstream-variant-2KB | USP30, USP30-AS1 | GRCh38.p7 | 12:109055385 | atatatatacatata[C/T]atatatatatatata | 84749 |
rs12307368 | snp | A/G | | | intron-variant, upstream-variant-2KB | USP30 | GRCh38.p7 | 12:109046122 | tttttttttttttta[A/G]atggagtctcactct | 84749 |
rs12307634 | snp | A/G | 0.00760445 | 0.0611915 | intron-variant, upstream-variant-2KB | USP30 | GRCh38.p7 | 12:109046558 | tcacagaaacatcca[A/G]actaatgtctgacca | 84749 |
rs12308752 | snp | C/T | 0.0189856 | 0.0955633 | intron-variant | USP30 | GRCh38.p7 | 12:109080766 | tggtacggtaccttt[C/T]ctgtttttagataca | 84749 |
rs12309096 | snp | A/T | | | intron-variant, upstream-variant-2KB | USP30 | GRCh38.p7 | 12:109051277 | tttttttttttttga[A/T]gctgaatctctctct | 84749 |
rs12309678 | snp | C/T | 0.25912 | 0.249834 | intron-variant | USP30 | GRCh38.p7 | 12:109064568 | TACAGGCGTAGACCA[C/T]TGCACCTGGCCTCAT | 84749 |
rs12312381 | snp | A/G | 0.00199481 | 0.0315187 | intron-variant | USP30 | GRCh38.p7 | 12:109023711 | caatctcggctcact[A/G]ctacctccacctccc | 84749 |
rs12314002 | snp | A/C | 0 | 0 | intron-variant | USP30 | GRCh38.p7 | 12:109031320 | cctcaatggcattgt[A/C]tttgtcatgctggat | 84749 |
rs12316216 | snp | A/G | 0.252421 | 0.249988 | intron-variant, upstream-variant-2KB | USP30, USP30-AS1 | GRCh38.p7 | 12:109055850 | gaaaaaaaaCATAGC[A/G]AATAGGTTAATTTTA | 84749 |
rs12317002 | snp | A/G | 0.173643 | 0.238054 | upstream-variant-2KB, utr-variant-5-prime | USP30, SVOP | GRCh38.p7 | 12:109021143 | GCCCTTCTGCTTGGA[A/G]GAGTTCACAGGCTCT | 84749 |
rs12321746 | snp | A/G | 0.0115144 | 0.0749975 | intron-variant | USP30 | GRCh38.p7 | 12:109064560 | gctgggattacaggc[A/G]tagaccactgcacct | 84749 |
rs12368871 | snp | C/T | | | intron-variant, upstream-variant-2KB | USP30, USP30-AS1 | GRCh38.p7 | 12:109055397 | atatatatatatata[C/T]atatttttttttttt | 84749 |