SNP - dbSNP |
dbSNP | Type | Alleles | Het | Se(het) | Fxn-class | Gene Name | Assembly | Chr-pos | Sequence | Entrez Gene |
rs736175 | snp | A/C | 0.495445 | 0.0475058 | intron-variant | SACS | GRCh38.p7 | 13:23342638 | CCCTAACCCAAAAAT[A/C]TGAAACCCCAAATGT | 26278 |
rs878480 | snp | C/T | 0.445196 | 0.1562 | intron-variant | SACS | GRCh38.p7 | 13:23372823 | ATTCTACACCCATCC[C/T]CCACATCCACATCCA | 26278 |
rs881780 | snp | A/C | 0.157642 | 0.232314 | intron-variant | SACS | GRCh38.p7 | 13:23373896 | ATTGCAGAGGAGGCT[A/C]CTGATGTTGACATTG | 26278 |
rs943242 | snp | C/T | 0.215747 | 0.247642 | intron-variant | SACS | GRCh38.p7 | 13:23342394 | AAATTTATATAAGAA[C/T]CTTTTTATTTAAAGG | 26278 |
rs1008812 | snp | A/G | 0.486266 | 0.0817214 | intron-variant | SACS | GRCh38.p7 | 13:23392006 | TCCAAGGAAGGGCTC[A/G]GAATCACGCATGCAG | 26278 |
rs1008813 | snp | A/G | 0.4862 | 0.0819127 | intron-variant | SACS | GRCh38.p7 | 13:23392113 | TCCCCCCAACTTGAC[A/G]AGGACCTCAGACGGT | 26278 |
rs1008814 | snp | A/T | 0.4862 | 0.0819127 | intron-variant | SACS | GRCh38.p7 | 13:23392256 | CAAAGACACTTGGTA[A/T]GCCTCTCCCCAAAAC | 26278 |
rs1109437 | snp | C/T | 0.046775 | 0.145601 | upstream-variant-2KB | SACS | GRCh38.p7 | 13:23433732 | CCTGCCGCAGTCAGT[C/T]GCTCCCCCTACCCAG | 26278 |
rs1326505 | snp | A/C | 0.0414363 | 0.137845 | intron-variant | SACS | GRCh38.p7 | 13:23353029 | TGAACAGCAGGACAA[A/C]CCCAGAACTTTTCAG | 26278 |
rs1326506 | snp | A/G | 0.485049 | 0.0851591 | intron-variant | SACS | GRCh38.p7 | 13:23353106 | AAAGGATGCTTGCAG[A/G]AGTTGAAAGGTAGTA | 26278 |
rs1333473 | snp | C/T | 0.039522 | 0.134904 | intron-variant | SACS | GRCh38.p7 | 13:23431716 | GTTTCCATGTTGCCA[C/T]AGGAGTATTCTTTGG | 26278 |
rs1359668 | snp | A/C | 0.43555 | 0.167544 | intron-variant | SACS | GRCh38.p7 | 13:23397251 | ctttgtttgcaaact[A/C]tgttttcattaaggg | 26278 |
rs1409497 | snp | A/G | 0.0858192 | 0.188533 | intron-variant | SACS | GRCh38.p7 | 13:23343142 | TAAAACACTCAGAAG[A/G]TATTTCCTTGGGTTG | 26278 |
rs1409498 | snp | A/T | 0.214843 | 0.247516 | intron-variant | SACS | GRCh38.p7 | 13:23350559 | AGGAAAAGTTTCCAT[A/T]TCAGAAAAAACATAT | 26278 |
rs1409499 | snp | G/T | 0.215144 | 0.247558 | intron-variant | SACS | GRCh38.p7 | 13:23350560 | GGAAAAGTTTCCATA[G/T]CAGAAAAAACATATG | 26278 |
rs1409500 | snp | C/T | 0.25801 | 0.249872 | intron-variant | SACS | GRCh38.p7 | 13:23350843 | AAGCAAGATGACTTA[C/T]ATGATTGGTAAGTTG | 26278 |
rs1536365 | snp | C/T | 0.202027 | 0.245354 | SACS | 13 | allele_origin=T(germline)/C(germline) | 13:23354956 | CAACAGCTCGCTGAA[C/T]AGAGGCTCTAACACC | 26278 |
rs1536366 | snp | C/T | 0.0221141 | 0.102801 | intron-variant | SACS | GRCh38.p7 | 13:23392091 | GAGGGAAACCAAGTC[C/T]ACCGGGTCCCCCCAA | 26278 |
rs1952192 | snp | A/C | 0.288127 | 0.247076 | intron-variant | SACS | GRCh38.p7 | 13:23385875 | tggagaagtacaagg[A/C]gatgaatatcgtttc | 26278 |
rs1984575 | snp | C/T | 0.5 | 0 | intron-variant | SACS | GRCh38.p7 | 13:23387468 | TTTTTTTTTTTTTTT[C/T]TTTTCTGAGACGGAG | 26278 |
rs2025743 | snp | C/T | 0 | 0 | intron-variant | SACS | GRCh38.p7 | 13:23365886 | CACTCACCCACCATT[C/T]ACCAAACAAATGGTA | 26278 |
rs2031640 | snp | A/T | 0.202698 | 0.245484 | SACS | 13 | allele_origin=T(germline)/A(germline) | 13:23355916 | GCTGTCATCTTTGAG[A/T]TTCCAACATTGGCCT | 26278 |
rs2031641 | snp | A/G | 0.0821764 | 0.185298 | intron-variant | SACS | GRCh38.p7 | 13:23356106 | CATGAGCCATTAAAT[A/G]ACTAAAACAGATTTA | 26278 |
rs2148441 | snp | C/T | 0.153665 | 0.230694 | intron-variant | SACS | GRCh38.p7 | 13:23363296 | gcaatagtggggtct[C/T]ggctcactgcaacct | 26278 |
rs2148442 | snp | C/T | 0.456095 | 0.141508 | intron-variant | SACS | GRCh38.p7 | 13:23363304 | ggggtcttggctcac[C/T]gcaacctctgcctcc | 26278 |
rs2148443 | snp | C/T | 0.483491 | 0.0893421 | intron-variant | SACS | GRCh38.p7 | 13:23413511 | TCCGGAGCTGGTCTT[C/T]CTGTTTCCAGTCCAT | 26278 |
rs2148444 | snp | A/G | 0.48378 | 0.0885831 | intron-variant | SACS | GRCh38.p7 | 13:23413372 | ATAATGTCTAAGAGA[A/G]CATCTTGAAAATTAT | 26278 |
rs2182496 | snp | A/G | 0.152334 | 0.230133 | intron-variant | SACS | GRCh38.p7 | 13:23363529 | ccgcacccagccCAC[A/G]TTTATTTTAAATTGG | 26278 |
rs2182497 | snp | A/G | 0.153997 | 0.230832 | intron-variant | SACS | GRCh38.p7 | 13:23383349 | GGAGAAAGGATGTGG[A/G]GCAGTGAGAACAGCT | 26278 |
rs2274386 | snp | A/G | 0.000444682 | 0.0149045 | synonymous-codon | SACS | GRCh38.p7 | 13:23355388 | TTCATCAGCTAAAGA[A/G]TCAAGCTTACTACTG | 26278 |
rs2478343 | snp | G/T | 0.224709 | 0.248717 | intron-variant | SACS | GRCh38.p7 | 13:23382789 | GTGTGTGTGGTTTTT[G/T]TTTTTTTTTTTGAGA | 26278 |
rs2709229 | snp | C/T | 0.153997 | 0.230832 | intron-variant | SACS | GRCh38.p7 | 13:23372393 | ACACAGAAGGAGCAA[C/T]GTGCCCAGCATCAGT | 26278 |
rs2709230 | snp | C/T | 0.148661 | 0.22854 | intron-variant | SACS | GRCh38.p7 | 13:23372631 | GCACCCACCTCTCCG[C/T]TTCCTAGTTTCCTAG | 26278 |
rs2709231 | snp | A/T | 0.203267 | 0.245593 | intron-variant | SACS | GRCh38.p7 | 13:23361217 | GGGCTGTCTGTATGC[A/T]CTGCCTGGTTCTGCC | 26278 |
rs2709232 | snp | C/T | 0.202035 | 0.245356 | intron-variant | SACS | GRCh38.p7 | 13:23360897 | TGTGGTGGTGTGCGA[C/T]TGTGGTCCCAGCTAC | 26278 |
rs2709233 | snp | G/T | | | intron-variant | SACS | GRCh38.p7 | 13:23372901 | TATCCCTTCCCTTGG[G/T]TTCACCTTTACAGCT | 26278 |
rs2709234 | snp | C/G | 0.148996 | 0.228688 | intron-variant | SACS | GRCh38.p7 | 13:23373364 | CAACTAGCACCCGGT[C/G]CAGCAGCACAAGCCC | 26278 |
rs2709235 | snp | C/T | 0.23846 | 0.249734 | intron-variant | SACS | GRCh38.p7 | 13:23382001 | ATTAAAAGAGGAGCA[C/T]GCTACAGTCTTCCTC | 26278 |
rs2709236 | snp | A/T | 0.194278 | 0.243711 | intron-variant | SACS | GRCh38.p7 | 13:23372003 | AAATTTAAAAAAAAA[A/T]TTTTTTCAAATAGAG | 26278 |
rs2709237 | snp | C/T | 0.227959 | 0.249026 | intron-variant | SACS | GRCh38.p7 | 13:23367783 | AACTTGGCGAAACCC[C/T]GTCTCTATTAAAAGT | 26278 |
rs2709238 | snp | C/T | 0.485392 | 0.0842056 | intron-variant | SACS | GRCh38.p7 | 13:23352255 | CACACAGTAAAATAC[C/T]GTAACAATCAGAAAG | 26278 |
rs2709241 | snp | C/T | 0.046775 | 0.145601 | intron-variant | SACS | GRCh38.p7 | 13:23363956 | GGATTAGCTGCAAGG[C/T]ATCTTGTCTCTAAGA | 26278 |
rs2737699 | snp | C/T | 0.401405 | 0.198938 | SACS | 13 | allele_origin=T(germline)/C(germline) | 13:23331572 | AATTTCCTGTTAGCA[C/T]TGGCAATGACTCTTA | 26278 |
rs2737700 | snp | C/T | 0.482353 | 0.092261 | SACS | 13 | allele_origin=T(germline)/C(germline) | 13:23333895 | TGCTCTAATGAAAGC[C/T]GGCTGTATTCAGCTT | 26278 |
rs2737701 | snp | A/G | 0.00863298 | 0.0651303 | SACS | 13 | allele_origin=G(germline)/A(germline) | 13:23333538 | GGAGAAATGGACACA[A/G]TCATCATCATCTGCA | 26278 |
rs2766103 | snp | C/T | 0.0614824 | 0.164198 | intron-variant | SACS | GRCh38.p7 | 13:23359855 | CCCCAGAAGCCTCTC[C/T]TCATCCTCCCATCAA | 26278 |
rs2766104 | snp | C/T | 0.14933 | 0.228835 | intron-variant | SACS | GRCh38.p7 | 13:23371396 | AAATAGATAAAAATA[C/T]ATATATTTCTCCATT | 26278 |
rs2766113 | snp | A/C | 0.219349 | 0.248114 | downstream-variant-500B | SACS | GRCh38.p7 | 13:23328442 | AAAGATGAAGAACTC[A/C]TATCTGTCAGTAATA | 26278 |
rs2766114 | snp | A/G | 0.310878 | 0.242475 | intron-variant | SACS | GRCh38.p7 | 13:23343458 | TTGGGGCGCCAAAGC[A/G]GGTGGAACACGAGGT | 26278 |
rs2766115 | snp | C/T | 0.214843 | 0.247516 | intron-variant | SACS | GRCh38.p7 | 13:23347251 | GTTTTGGAGTACCTA[C/T]ACAAAGTGTACAATT | 26278 |
rs2766116 | snp | C/T | 0.0479149 | 0.147179 | intron-variant | SACS | GRCh38.p7 | 13:23358822 | TAAATCTTTTTTTGG[C/T]AAATGGAAAATATTT | 26278 |
rs3736945 | snp | A/G | 0.0146672 | 0.084371 | intron-variant | SACS | GRCh38.p7 | 13:23371294 | AATATTCACTTCTCC[A/G]GACAACTTCCTTCAT | 26278 |
rs3751368 | snp | C/T | 0.187426 | 0.242042 | intron-variant | SACS | GRCh38.p7 | 13:23375113 | CGGCCGCGAGGTAGG[C/T]GGTGGCCGGGGGCGC | 26278 |
rs3751369 | snp | A/G | 0.00195198 | 0.0311798 | synonymous-codon | SACS | GRCh38.p7 | 13:23340732 | ACAGGAACAGATGGT[A/G]TCAGCTGGTGAACTC | 26278 |
rs3858754 | snp | C/T | 0.498547 | 0.0269177 | intron-variant | SACS, SACS-AS1 | GRCh38.p7 | 13:23421771 | ACACCACGCTCCAGG[C/T]AGATACCCTGACCCC | 26278 |
rs3885664 | snp | C/T | | | intron-variant | SACS | GRCh38.p7 | 13:23387475 | AGACTTTTTTTTTTT[C/T]TTTTTTTTTTTCTGA | 26278 |
rs3934316 | snp | A/G | 0.0711525 | 0.174681 | intron-variant, nc-transcript-variant | SACS, SACS-AS1 | GRCh38.p7 | 13:23428055 | AGGGAAACTCAAGCT[A/G]TTCTGCCAGGTGCAG | 26278 |
rs4068499 | in-del | -/A | 0 | 0 | intron-variant | SACS | GRCh38.p7 | 13:23341781 | GAGCAAGACTCCGTC[-/A]AAAAAAAAAAAAAAA | 26278 |
rs4083575 | snp | A/G | 0.379158 | 0.214052 | intron-variant, nc-transcript-variant | SACS, SACS-AS1 | GRCh38.p7 | 13:23427223 | GTTAAAAAATATTAG[A/G]TCAGCAAAAGTAGTA | 26278 |
rs4143768 | snp | A/G | 0.404002 | 0.196935 | SACS | 13 | allele_origin=G(germline)/A(germline) | 13:23337681 | TGCTTCAATTTCTTG[A/G]ATATTTGGAAAAAAC | 26278 |
rs4391906 | snp | C/T | 0.225893 | 0.248835 | intron-variant | SACS | GRCh38.p7 | 13:23398696 | gagatctgggatcaa[C/T]ggaaaggaatgttta | 26278 |
rs4583072 | snp | A/G | 0.0941369 | 0.195465 | intron-variant | SACS | GRCh38.p7 | 13:23381734 | TTTTTATCATATTGT[A/G]TTTTTACTATTTCTT | 26278 |
rs4769265 | snp | C/T | 0.0858192 | 0.188533 | intron-variant | SACS | GRCh38.p7 | 13:23344405 | CACACACACACACAC[C/T]ACATATAGCATGCAA | 26278 |
rs4769266 | snp | C/G | 0.548016 | 0.0949564 | intron-variant | SACS | GRCh38.p7 | 13:23364486 | GGGTTTTGCCACGTT[C/G]GCCAGGCTGGTCCCA | 26278 |
rs4769268 | snp | A/C | 0 | 0 | intron-variant | SACS | GRCh38.p7 | 13:23385999 | taaaatattccgtaa[A/C]ccatgctgtaaatgg | 26278 |
rs4769272 | snp | A/G | 0.375797 | 0.216044 | intron-variant | SACS | GRCh38.p7 | 13:23432272 | AGAAAACACTTAATC[A/G]TGGAAAAGTTCTTAT | 26278 |
rs4770433 | snp | A/G | 0.451608 | 0.147832 | utr-variant-3-prime | SACS | GRCh38.p7 | 13:23329652 | AACAAATTCATGATC[A/G]GAGCCAGCTGATGAG | 26278 |
rs4770434 | snp | C/T | 0.0858192 | 0.188533 | intron-variant | SACS | GRCh38.p7 | 13:23344038 | AATTTTGTCAGCAGC[C/T]TGACTAGTATAGCCT | 26278 |
rs4770435 | snp | A/G | 0.143284 | 0.226079 | intron-variant | SACS | GRCh38.p7 | 13:23369387 | GGAAGTAATGCCTCA[A/G]ATACACAGCATTTCA | 26278 |
rs4770436 | snp | C/T | 0.146985 | 0.227789 | upstream-variant-2KB, intron-variant | SACS | GRCh38.p7 | 13:23377380 | ATTTGAATGAAAACA[C/T]GGAATGAAAAACCTC | 26278 |
rs4770437 | snp | A/T | 0.492918 | 0.0590819 | upstream-variant-2KB, intron-variant | SACS | GRCh38.p7 | 13:23377487 | TGGTCAGAACAGACA[A/T]CTTTGCTCCCAAATA | 26278 |
rs4770440 | snp | C/T | 0.27278 | 0.24896 | intron-variant | SACS | GRCh38.p7 | 13:23391435 | TTGGCCCATAAGGAG[C/T]CCCCACAGGAGCTGG | 26278 |
rs4770441 | snp | A/G | 0.275464 | 0.2487 | intron-variant | SACS | GRCh38.p7 | 13:23399894 | gccataaacttctcc[A/G]cacacataaacattc | 26278 |
rs4770442 | snp | C/T | 0.223522 | 0.248594 | intron-variant | SACS | GRCh38.p7 | 13:23400032 | aaagaaaacctgtct[C/T]tgactgccaagccac | 26278 |
rs4770443 | snp | C/T | 0.132409 | 0.220618 | intron-variant, upstream-variant-2KB | SACS, SACS-AS1 | GRCh38.p7 | 13:23417929 | CAAAAATTAGCCAGG[C/T]ATGGTGGCACGCACT | 26278 |
rs4770444 | snp | G/T | 0.0460142 | 0.144533 | intron-variant | SACS, SACS-AS1 | GRCh38.p7 | 13:23420079 | GGCCCGATAGTCACC[G/T]GGGGACTGGGTATGT | 26278 |
rs4770445 | snp | A/G | 0.175576 | 0.238665 | intron-variant | SACS, SACS-AS1 | GRCh38.p7 | 13:23421819 | ATCCACCTGGGGCCT[A/G]TAGTCTACCTGGGGC | 26278 |
rs4770446 | snp | C/T | 0.2768 | 0.248559 | intron-variant, nc-transcript-variant | SACS, SACS-AS1 | GRCh38.p7 | 13:23427270 | AATGTGTTCATGATA[C/T]TCTCTGCCCACTGAT | 26278 |
rs5802232 | snp | A/G | 0 | 0 | intron-variant | SACS | GRCh38.p7 | 13:23387474 | ctcagaaaaaaaaaa[A/G]aaaaaaaaaaaagtc | 26278 |
rs5802233 | in-del | -/A | 0.281577 | 0.247998 | intron-variant | SACS | GRCh38.p7 | 13:23414423 | GGAAGCAGGACCTCC[-/A]AGGGCTATCTGCCAC | 26278 |
rs6490792 | snp | A/C | 0.188631 | 0.242351 | intron-variant | SACS | GRCh38.p7 | 13:23366571 | AAATAGGTAGTGAAA[A/C]ACAATGTTAACTTAC | 26278 |
rs6490793 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | SACS | GRCh38.p7 | 13:23398491 | gtgagccgagatggc[A/G]ccattacactccagc | 26278 |
rs6490794 | snp | C/G | 0.465052 | 0.127485 | intron-variant, nc-transcript-variant | SACS, SACS-AS1 | GRCh38.p7 | 13:23427805 | CTTCCCAGAAACTAG[C/G]ACAGCAACACCTGGC | 26278 |
rs6490795 | snp | A/G | 0.49306 | 0.0584955 | upstream-variant-2KB | SACS | GRCh38.p7 | 13:23434634 | GGGAGATAGGTGGGA[A/G]ACCTGTTCTAACAAA | 26278 |
rs7317582 | snp | C/T | 0.0429648 | 0.14013 | intron-variant, nc-transcript-variant | SACS, SACS-AS1 | GRCh38.p7 | 13:23427996 | GGATTCCTTCGCTTT[C/T]CATAGTTTTCAGTGC | 26278 |
rs7320968 | snp | A/G | 0.264084 | 0.249603 | intron-variant, upstream-variant-2KB | SACS, SACS-AS1 | GRCh38.p7 | 13:23417765 | aaccctcaaggaaag[A/G]attgttaaaatcaaa | 26278 |
rs7323108 | snp | G/T | 0.208169 | 0.246476 | intron-variant | SACS | GRCh38.p7 | 13:23390020 | TCTACAAATTTTCAA[G/T]GGATTTGGTTTTTTT | 26278 |
rs7328867 | snp | C/T | 0.0232847 | 0.105357 | intron-variant | SACS | GRCh38.p7 | 13:23352141 | CCCTTCTCACCTGAT[C/T]TGGCCCTGAATAACT | 26278 |
rs7329663 | snp | A/G | 0.201727 | 0.245295 | intron-variant | SACS | GRCh38.p7 | 13:23367086 | CACTCGCTCACTTCT[A/G]AACAGATGACAACCT | 26278 |
rs7331463 | snp | C/T | 0.469247 | 0.120128 | intron-variant | SACS | GRCh38.p7 | 13:23400957 | attattaagtttatt[C/T]gatttgttgaactga | 26278 |
rs7333104 | snp | C/T | 0.483636 | 0.0889627 | intron-variant | SACS | GRCh38.p7 | 13:23401704 | cttaaggcttttgca[C/T]cacttttgttttact | 26278 |
rs7333168 | snp | G/T | 0.281577 | 0.247998 | intron-variant | SACS, SACS-AS1 | GRCh38.p7 | 13:23425339 | CCTGGGGCCTGGTAT[G/T]AACCTGGGCATCCAC | 26278 |
rs7334851 | snp | A/G | 0.0232847 | 0.105357 | intron-variant | SACS | GRCh38.p7 | 13:23388999 | GTATTCAAAAAATAC[A/G]TAACATGAGTTTTCT | 26278 |
rs7335042 | snp | C/T | | | intron-variant | SACS | GRCh38.p7 | 13:23382957 | accatgcccagctaa[C/T]ttttttttttttttt | 26278 |
rs7335204 | snp | C/T | | | intron-variant | SACS | GRCh38.p7 | 13:23382982 | tttttttttttttgg[C/T]agagacgaggtctca | 26278 |
rs7335543 | snp | C/T | 0.160938 | 0.233598 | intron-variant | SACS | GRCh38.p7 | 13:23404851 | agaatacaccttaca[C/T]gggatgtgaaggacc | 26278 |
rs7336180 | snp | G/T | 0.424193 | 0.179323 | intron-variant | SACS | GRCh38.p7 | 13:23416038 | taatcctagcactct[G/T]gggggctgaggctgt | 26278 |
rs7336181 | snp | C/G | 0.4419 | 0.174736 | intron-variant | SACS | GRCh38.p7 | 13:23416039 | aatcctagcactctg[C/G]ggggctgaggctgtt | 26278 |
rs7336426 | snp | A/T | 0.33533 | 0.234987 | intron-variant | SACS | GRCh38.p7 | 13:23398204 | ctcaaaaaataaaat[A/T]aaattaaattaaatt | 26278 |
rs7338731 | snp | C/T | 0.431325 | 0.172108 | intron-variant | SACS | GRCh38.p7 | 13:23416603 | tctctactaaaaata[C/T]aaaattagctgggcg | 26278 |