SNP - dbSNP |
dbSNP | Type | Alleles | Het | Se(het) | Fxn-class | Gene Name | Assembly | Chr-pos | Sequence | Entrez Gene |
rs754498 | snp | A/G | 0.0197687 | 0.0974348 | intron-variant | SCAP | GRCh38.p7 | 3:47416098 | CCTTGGGGAGGGGGC[A/G]TCCCTTGCCCTTAGT | 22937 |
rs878659 | snp | C/T | 0.496681 | 0.0405994 | intron-variant | SCAP | GRCh38.p7 | 3:47459172 | GTCCATGGGCCAAGA[C/T]ATTGTGTGAAATGAC | 22937 |
rs881264 | snp | A/T | 0 | 0 | intron-variant | SCAP | GRCh38.p7 | 3:47458608 | TTGAAGTAAGACCAA[A/T]TTATATTAGTTGGTT | 22937 |
rs900690 | snp | C/T | 0.0263046 | 0.111626 | synonymous-codon | SCAP | GRCh38.p7 | 3:47420710 | GTAGCGCGTTGGCTG[C/T]CCCACTGGCTTGGCT | 22937 |
rs900691 | snp | A/G | 0.0471551 | 0.14613 | intron-variant | SCAP | GRCh38.p7 | 3:47421097 | CCCAAGAGGAGCAGT[A/G]CCCGGACTGCAGCCA | 22937 |
rs900692 | snp | C/G | 0.0883596 | 0.190715 | intron-variant | SCAP | GRCh38.p7 | 3:47442636 | CATTATTTTGAGATA[C/G]AGTACCAGTGATATG | 22937 |
rs1038394 | snp | A/G | 0.496681 | 0.0405994 | intron-variant | SCAP | GRCh38.p7 | 3:47422632 | TGGCAGAGGCATGGC[A/G]AGGCCCCCCAGCCCT | 22937 |
rs1051496 | snp | C/T | 0 | 0 | utr-variant-3-prime, downstream-variant-500B | PTPN23, SCAP | GRCh38.p7 | 3:47413355 | AATGTACTGCAGGCT[C/T]TGGGTCAGGTTCTGC | 22937 |
rs1078224 | snp | A/G | 0.00636936 | 0.0560724 | intron-variant | SCAP | GRCh38.p7 | 3:47415386 | agtttcttcatccgt[A/G]aaatggggataagag | 22937 |
rs1872165 | snp | C/T | 0.0854556 | 0.188216 | intron-variant | SCAP | GRCh38.p7 | 3:47423267 | ACCCCAGATCCCCAG[C/T]TTCTACCAGCAGGGC | 22937 |
rs2046376 | snp | C/T | 1.64732e-05 | 0.0028699 | intron-variant, stop-gained, upstream-variant-2KB, utr-variant-5-prime | SCAP | GRCh38.p7 | 3:47427544 | TTCCCAGTCATTCTG[C/T]CAGAAGTTCCCAGGG | 22937 |
rs2101247 | snp | A/G | 0.48155 | 0.0942576 | intron-variant | SCAP | GRCh38.p7 | 3:47452813 | AGCAGGGCAGGCATC[A/G]TAGCTAACTAATGTC | 22937 |
rs2306628 | snp | C/T | 0.0562768 | 0.158035 | intron-variant | SCAP | GRCh38.p7 | 3:47417260 | AAGGCCCACAATCCC[C/T]GGGGCGGACAGCCGC | 22937 |
rs3077503 | in-del | -/TTTTTTTTT | | | intron-variant | SCAP | GRCh38.p7 | 3:47416636 | ttttttttttttttt[-/TTTTTTTTT]gagacggagtctcgc | 22937 |
rs3077506 | in-del | -/TG | | | intron-variant, frameshift-variant, upstream-variant-2KB, utr-variant-5-prime | SCAP | GRCh38.p7 | 3:47427542 | CGTTCCCAGTCATTC[-/TG]CCAGAAGTTCCCAGG | 22937 |
rs3796354 | snp | A/G | | | intron-variant | SCAP | GRCh38.p7 | 3:47416208 | CAGGTGCCTTCTGCC[A/G]GACGCCTTTGCCTGC | 22937 |
rs3830277 | in-del | -/GCCAC | | | intron-variant, utr-variant-3-prime, downstream-variant-500B | PTPN23, SCAP | GRCh38.p7 | 3:47413809 | CAGTGCATTGGCCCC[-/GCCAC]CACACAGCACCCCAG | 22937 |
rs3898288 | snp | G/T | | | intron-variant | SCAP | GRCh38.p7 | 3:47467066 | tccctaattcaccca[G/T]ggtggagtgcattgc | 22937 |
rs4547726 | snp | C/T | 0 | 0 | intron-variant | SCAP | GRCh38.p7 | 3:47419108 | CACAGGTGGGTGGGT[C/T]TCATTCTGGTGAGGG | 22937 |
rs4599333 | snp | C/T | | | intron-variant | SCAP | GRCh38.p7 | 3:47442828 | AGAAAACCTACTGTC[C/T]TAAGACACTGGCCCA | 22937 |
rs4858811 | snp | C/G | 0.481627 | 0.0940692 | intron-variant | SCAP | GRCh38.p7 | 3:47439034 | ctattctaagcactt[C/G]atatgtacagataca | 22937 |
rs4858812 | snp | C/T | 0.0854556 | 0.188216 | intron-variant | SCAP | GRCh38.p7 | 3:47439036 | attctaagcacttga[C/T]atgtacagatacatc | 22937 |
rs4858816 | snp | A/G | 0.5 | 0 | intron-variant | SCAP | GRCh38.p7 | 3:47462771 | AAAAAAAAAAAAAAA[A/G]AAAGAAAGAAAGAAA | 22937 |
rs4858868 | snp | A/G | 0.496649 | 0.0407971 | downstream-variant-500B | PTPN23, SCAP | GRCh38.p7 | 3:47413596 | TTGCTCATCCTCCCC[A/G]TGCCACACTGTATGT | 22937 |
rs4858889 | snp | A/G | 0.107341 | 0.205301 | intron-variant | SCAP | GRCh38.p7 | 3:47438867 | AGCGTTTGCATAGTA[A/G]TCACAGAGTATAGTC | 22937 |
rs4858893 | snp | C/T | 0.496984 | 0.0387176 | intron-variant | SCAP | GRCh38.p7 | 3:47443307 | TCTCTCTCTCTCTCT[C/T]TCTCCCTCCCCGCCC | 22937 |
rs4858894 | snp | C/G | 0.508232 | 0.061893 | intron-variant | SCAP | GRCh38.p7 | 3:47443463 | GGCATTCTTCCCCCC[C/G]CTCCTCTATGCACAA | 22937 |
rs4858896 | snp | A/G | 0.0356815 | 0.128715 | intron-variant | SCAP | GRCh38.p7 | 3:47455364 | acttgggaggccgag[A/G]tgggcagatcacctg | 22937 |
rs5848833 | in-del | -/GC | | | intron-variant, frameshift-variant, upstream-variant-2KB, utr-variant-5-prime | SCAP | GRCh38.p7 | 3:47427543 | GTTCCCAGTCATTCT[-/GC]CAGAAGTTCCCAGGG | 22937 |
rs5848834 | in-del | -/A | 0 | 0 | intron-variant | SCAP | GRCh38.p7 | 3:47452927 | AGATCCTGTCTCTAC[-/A]AAAAAAAAAAAAATT | 22937 |
rs6442066 | snp | C/T | 0.039522 | 0.134904 | intron-variant | SCAP | GRCh38.p7 | 3:47414735 | GCCCTCTGTTCTTCA[C/T]CAGGACTCTTCCAGC | 22937 |
rs6442068 | snp | C/T | 0.0854556 | 0.188216 | intron-variant | SCAP | GRCh38.p7 | 3:47433259 | CTTTATCAAGGACAG[C/T]CAATGGAGGTGAGAT | 22937 |
rs6442069 | snp | A/G | 0.0854556 | 0.188216 | intron-variant | SCAP | GRCh38.p7 | 3:47462343 | AGCCTCTGCCCCATC[A/G]GCTATACAACCTCTG | 22937 |
rs6765597 | snp | A/G | 0.00755907 | 0.0610114 | intron-variant | SCAP | GRCh38.p7 | 3:47463902 | ggatacagttgtaca[A/G]tcgtggctcactgcg | 22937 |
rs6772227 | snp | C/T | 0.5 | 0 | intron-variant | SCAP | GRCh38.p7 | 3:47435469 | TATATAATATAAACA[C/T]ACACACACACACACA | 22937 |
rs6772923 | snp | A/G | 0 | 0 | intron-variant | SCAP | GRCh38.p7 | 3:47473455 | GGAGCTCAGGTGGCA[A/G]AGGTGTGGCAGACCT | 22937 |
rs6785538 | snp | C/T | 0.0858192 | 0.188533 | intron-variant | SCAP | GRCh38.p7 | 3:47444857 | gctcaatgaaatctc[C/T]gtctcctgggtttaa | 22937 |
rs6788191 | snp | C/T | 0.00563631 | 0.0527863 | intron-variant | SCAP | GRCh38.p7 | 3:47415068 | CCGTCCCACCAAGTG[C/T]GAACACCTGCCCACC | 22937 |
rs6792461 | snp | C/T | 0.481473 | 0.0944461 | intron-variant | SCAP | GRCh38.p7 | 3:47431678 | ggagaggaagatcag[C/T]ggtaaaatgtcctcc | 22937 |
rs6792488 | snp | C/T | 0.481396 | 0.0946345 | intron-variant | SCAP | GRCh38.p7 | 3:47461859 | AGCAACACGGTGAAA[C/T]CCTATCTCTACTAAA | 22937 |
rs6800271 | snp | A/T | 0.495056 | 0.049474 | intron-variant | SCAP | GRCh38.p7 | 3:47429297 | ataacaCATCTACTA[A/T]GGGCAAAGCACTGTG | 22937 |
rs6800588 | snp | C/T | 0.222333 | 0.248464 | intron-variant | SCAP | GRCh38.p7 | 3:47459763 | tcagctgtgcacgta[C/T]tgtcttgataaacat | 22937 |
rs6800839 | snp | A/G | | | intron-variant | SCAP | GRCh38.p7 | 3:47416745 | cattctcctgcctca[A/G]cctcccaagtagctg | 22937 |
rs6801270 | snp | A/G | 0.0854556 | 0.188216 | intron-variant | SCAP | GRCh38.p7 | 3:47460576 | ttgtctttttgagac[A/G]gagtctcactctgtc | 22937 |
rs6804017 | snp | C/T | 0.0154538 | 0.0865337 | intron-variant | SCAP | GRCh38.p7 | 3:47430743 | GGAGACAAGGAAACA[C/T]GGCCCTAGACAGCGG | 22937 |
rs7372780 | snp | C/G | 0.0861826 | 0.188849 | intron-variant | SCAP | GRCh38.p7 | 3:47421795 | TGGGGGAAAGACGGG[C/G]GAGAAAAGATGGCAT | 22937 |
rs7611273 | snp | C/T | 0.00199481 | 0.0315187 | intron-variant | SCAP | GRCh38.p7 | 3:47467327 | gaagatatacaggct[C/T]ggtggggtggctcat | 22937 |
rs7615610 | snp | A/C | 0.0150606 | 0.0854603 | intron-variant | SCAP | GRCh38.p7 | 3:47449222 | gttctgaggaacagc[A/C]caagagttcatatgc | 22937 |
rs7619813 | snp | C/G | 0.0178098 | 0.0926698 | intron-variant | SCAP | GRCh38.p7 | 3:47445405 | gtgcccgccactacg[C/G]ccagctattttttcg | 22937 |
rs7621853 | snp | C/T | 0.0894459 | 0.191631 | intron-variant | SCAP | GRCh38.p7 | 3:47451201 | tatcacagaaaagca[C/T]acaaattataagcac | 22937 |
rs7644043 | snp | C/T | 0.0854556 | 0.188216 | intron-variant | SCAP | GRCh38.p7 | 3:47429079 | tcacccttccttcca[C/T]caatcatctgctaat | 22937 |
rs7648696 | snp | C/T | 0.450985 | 0.148678 | intron-variant | SCAP | GRCh38.p7 | 3:47440732 | aaaattagtggtgca[C/T]gcctatagtcccaac | 22937 |
rs7649234 | snp | C/G | 0.495095 | 0.0492773 | intron-variant | SCAP | GRCh38.p7 | 3:47452890 | GCCAGGAAAGTTCAA[C/G]ACCAGCCTGGGCAAC | 22937 |
rs7651762 | snp | A/G | 0.481473 | 0.0944461 | intron-variant | SCAP | GRCh38.p7 | 3:47428994 | atactaactcccccc[A/G]gaatttgcacatggg | 22937 |
rs9683033 | snp | C/T | 0.496746 | 0.040204 | intron-variant | SCAP | GRCh38.p7 | 3:47448330 | actgtcctgaaatca[C/T]ttattagtgccagag | 22937 |
rs9683177 | snp | A/G | 0.496714 | 0.0404017 | intron-variant | SCAP | GRCh38.p7 | 3:47449003 | aatcaacctaattag[A/G]tccagtccacaagtt | 22937 |
rs9818988 | snp | A/T | | | intron-variant | SCAP | GRCh38.p7 | 3:47445646 | gcgcgatctcagctc[A/T]ctgtaaactccgcct | 22937 |
rs9823177 | snp | C/T | | | synonymous-codon | SCAP | GRCh38.p7 | 3:47418169 | TAGGCAATCCCCGGT[C/T]TGCGCGTCCCACACG | 22937 |
rs9825749 | snp | A/G | 0 | 0 | intron-variant | SCAP | GRCh38.p7 | 3:47471600 | ggtctcgaactcctg[A/G]cctcaggtgatccac | 22937 |
rs9836061 | snp | A/C | 0.00318978 | 0.0398085 | intron-variant | SCAP | GRCh38.p7 | 3:47466135 | agactgtcttaaaaa[A/C]caaaaaaaaaaaaaa | 22937 |
rs9840942 | snp | A/T | 0 | 0 | intron-variant | SCAP | GRCh38.p7 | 3:47433570 | GTGCTAACATTGCAT[A/T]AAAAGGTTAATGAAG | 22937 |
rs9843160 | snp | A/G | 0 | 0 | intron-variant | SCAP | GRCh38.p7 | 3:47462066 | CATTCAGATTTAAAT[A/G]TTTACTATAATCAGT | 22937 |
rs9867128 | snp | A/G | 0 | 0 | intron-variant | SCAP | GRCh38.p7 | 3:47447224 | ggctaacacagtgaa[A/G]ccccttctctactaa | 22937 |
rs9867204 | snp | C/T | 0.00119737 | 0.0244387 | intron-variant | SCAP | GRCh38.p7 | 3:47447464 | tgaggcaaaggtggg[C/T]ggattacaaggtcag | 22937 |
rs9872793 | snp | C/T | 0.00279162 | 0.0372561 | upstream-variant-2KB, intron-variant | SCAP, LOC105377073 | GRCh38.p7 | 3:47478727 | gtgggatccacccgc[C/T]tcagcctctcaaagt | 22937 |
rs9884092 | snp | G/T | | | intron-variant | SCAP | GRCh38.p7 | 3:47441901 | tttttttttttttgg[G/T]cttgctatgttgccc | 22937 |
rs10446461 | snp | G/T | | | intron-variant | SCAP | GRCh38.p7 | 3:47444890 | tattctcctgactca[G/T]cctcccaagtagctg | 22937 |
rs10652619 | in-del | -/AGAATG | 0 | 0 | intron-variant | SCAP | GRCh38.p7 | 3:47438430 | AGAAACGACTACAAG[-/AGAATG]TGATCAGAATTCATT | 22937 |
rs10712274 | in-del | -/T | 0.357664 | 0.225629 | intron-variant | SCAP | GRCh38.p7 | 3:47451415 | TTTTTTTTTTTTTTT[-/T]GAGACAGGGTCTCAC | 22937 |
rs10865947 | snp | A/G | 0.0861826 | 0.188849 | intron-variant | SCAP | GRCh38.p7 | 3:47424671 | AGGGAGGGCCCTGTG[A/G]AGGGTATGGCAGACG | 22937 |
rs11130128 | snp | C/T | 0.481319 | 0.0948228 | intron-variant | SCAP | GRCh38.p7 | 3:47445142 | ttgtccattcatcag[C/T]tgataaacatttggg | 22937 |
rs11130129 | snp | C/G | 0.480539 | 0.0967035 | intron-variant | SCAP | GRCh38.p7 | 3:47448395 | ggaaatttctacgta[C/G]acttatcatgttatc | 22937 |
rs11308011 | in-del | -/A | | | intron-variant | SCAP | GRCh38.p7 | 3:47432315 | CAAGACTCCGTCTTG[-/A]AAAAAAAAAAAAAAA | 22937 |
rs11386934 | in-del | -/A | 0.145642 | 0.227177 | intron-variant | SCAP | GRCh38.p7 | 3:47453397 | AAAAATTTTTAATGG[-/A]AAAAAAAAAAGACCT | 22937 |
rs11546518 | snp | A/G/T | 3.39207e-05 | 0.00411816 | missense | SCAP | GRCh38.p7 | 3:47418359 | TATGCGCCACCCGAG[A/G/T]CGGAGATCGTGCCGC | 22937 |
rs11707272 | snp | C/T | 0.0854556 | 0.188216 | upstream-variant-2KB, intron-variant | SCAP, LOC105377073 | GRCh38.p7 | 3:47478116 | TCAGGAGCCTGTCTT[C/T]TAACCACCTCCATGG | 22937 |
rs11707638 | snp | A/C | | | intron-variant | SCAP | GRCh38.p7 | 3:47452288 | cggctactcaggaga[A/C]tgaggtgggacaatc | 22937 |
rs11708770 | snp | A/T | 0.481473 | 0.0944461 | upstream-variant-2KB, intron-variant, nc-transcript-variant | SCAP, LOC105377073 | GRCh38.p7 | 3:47476284 | CTTGGGCAACGTAGG[A/T]GACCTCCGTCTCCAC | 22937 |
rs11709190 | snp | A/T | | | intron-variant | SCAP | GRCh38.p7 | 3:47455094 | atatatatatatata[A/T]aatcaactgaaaacc | 22937 |
rs11711824 | snp | C/T | 0.496778 | 0.0400063 | intron-variant, upstream-variant-2KB | SCAP | GRCh38.p7 | 3:47426771 | GAGGCCTAGGAGAGC[C/T]GATCAGAAGCACCTC | 22937 |
rs11712403 | snp | A/T | 0 | 0 | intron-variant | SCAP | GRCh38.p7 | 3:47463895 | ccaggctggatacag[A/T]tgtacaatcgtggct | 22937 |
rs11712590 | snp | A/G | 0.403334 | 0.197456 | intron-variant | SCAP | GRCh38.p7 | 3:47437340 | gctactcagaaggct[A/G]aggcaggaaaatcac | 22937 |
rs11713842 | snp | A/G | | | intron-variant | SCAP | GRCh38.p7 | 3:47438729 | tgaggcaggagaatc[A/G]cttgaacccgggagg | 22937 |
rs11716661 | snp | G/T | 0.481396 | 0.0946345 | upstream-variant-2KB, intron-variant, nc-transcript-variant | SCAP, LOC105377073 | GRCh38.p7 | 3:47476283 | ACTTGGGCAACGTAG[G/T]AGACCTCCGTCTCCA | 22937 |
rs11716763 | snp | C/T | 0.480853 | 0.0959518 | upstream-variant-2KB, intron-variant | SCAP, LOC105377073 | GRCh38.p7 | 3:47476776 | AAACACAGGTCCCCA[C/T]CTGCCCAGCTCTGGC | 22937 |
rs11717442 | snp | C/T | 0.277778 | 0.248452 | intron-variant | SCAP | GRCh38.p7 | 3:47443306 | CTCTCTCTCTCTCTC[C/T]CTCTCCCTCCCCGCC | 22937 |
rs11718842 | snp | A/C | 0 | 0 | intron-variant | SCAP | GRCh38.p7 | 3:47420806 | TCAGGGCCTGAGTCC[A/C]CCATCCAGAGGCTGC | 22937 |
rs11721160 | snp | A/T | | | intron-variant | SCAP | GRCh38.p7 | 3:47443276 | CACACACACACACAC[A/T]CTCTCTCTCTCTCTC | 22937 |
rs11917409 | snp | A/C | | | intron-variant | SCAP | GRCh38.p7 | 3:47446370 | tagagacgaagtttc[A/C]ctatgttggccaggc | 22937 |
rs12054363 | snp | A/G | 0 | 0 | intron-variant | SCAP | GRCh38.p7 | 3:47448144 | ttttccatctactta[A/G]atctttgatttcttt | 22937 |
rs12054364 | snp | A/G | | | intron-variant | SCAP | GRCh38.p7 | 3:47448209 | gtacatgttttgtta[A/G]atttatacctaccat | 22937 |
rs12487736 | snp | C/T | 0.4665 | 0.125011 | missense | SCAP | GRCh38.p7 | 3:47418189 | CGTCCCACACGCAGA[C/T]GTGGCCTGCCAGGCA | 22937 |
rs12490383 | snp | C/T | 0.3512 | 0.228601 | intron-variant | SCAP | GRCh38.p7 | 3:47452667 | GCCCAGAAATCTCTA[C/T]TTAACACACCCTCCA | 22937 |
rs12491029 | snp | A/G | 0.0883596 | 0.190715 | intron-variant | SCAP | GRCh38.p7 | 3:47467605 | aagaccccgtctcaa[A/G]aaaaagaaaaagaaa | 22937 |
rs12492433 | snp | A/G | 0.497502 | 0.035255 | intron-variant | SCAP | GRCh38.p7 | 3:47474067 | TCAGGAGATAGAGAC[A/G]ATCCTGGCTAACACG | 22937 |
rs12631697 | snp | A/G | 0.226484 | 0.248892 | upstream-variant-2KB, utr-variant-5-prime, intron-variant | SCAP, LOC105377073 | GRCh38.p7 | 3:47477000 | TTCTCTGGGAGTTCC[A/G]GAAAGTGCAGATCTA | 22937 |
rs12632132 | snp | C/T | 0.496842 | 0.0396107 | intron-variant | SCAP | GRCh38.p7 | 3:47435529 | ACACAGATAGATAGG[C/T]GCCTGCCACTACATC | 22937 |
rs12636851 | snp | C/T | 0.481627 | 0.0940692 | intron-variant | SCAP | GRCh38.p7 | 3:47422077 | CTTCTCCCTCAAAAA[C/T]GGGAAACAGGTGTGA | 22937 |
rs13058785 | snp | C/G | 0 | 0 | intron-variant | SCAP | GRCh38.p7 | 3:47443631 | ACGCTAAAAAGCTTA[C/G]GTCTCTGACATAATG | 22937 |
rs13060272 | snp | C/T | 0.00119737 | 0.0244387 | intron-variant | SCAP | GRCh38.p7 | 3:47438674 | caaaaattggccgga[C/T]gcggtggcacacgcc | 22937 |