SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs2229311 |
G>A,C,T |
Pathogenic-likely-pathogenic |
Missense variant, non coding transcript variant, coding sequence variant, intron variant |
rs28940889 |
C>T |
Pathogenic |
Non coding transcript variant, missense variant, genic downstream transcript variant, coding sequence variant |
rs34695403 |
C>G,T |
Uncertain-significance, likely-pathogenic |
Non coding transcript variant, intron variant, missense variant, coding sequence variant |
rs121434284 |
T>C |
Pathogenic |
Coding sequence variant, upstream transcript variant, missense variant, genic upstream transcript variant, non coding transcript variant, 5 prime UTR variant |
rs121434285 |
G>T |
Uncertain-significance, pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
rs140098686 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Non coding transcript variant, intron variant, synonymous variant, coding sequence variant |
rs142761835 |
G>A |
Pathogenic-likely-pathogenic, pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
rs143348838 |
G>A |
Likely-pathogenic, uncertain-significance |
Coding sequence variant, missense variant, non coding transcript variant, genic downstream transcript variant, intron variant |
rs145999491 |
A>T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Non coding transcript variant, intron variant, missense variant, coding sequence variant |
rs146861563 |
C>T |
Likely-pathogenic, uncertain-significance |
Missense variant, non coding transcript variant, coding sequence variant |
rs367814475 |
G>C,T |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant |
rs368705240 |
C>T |
Pathogenic |
Intron variant, downstream transcript variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant, stop gained |
rs371427844 |
C>T |
Pathogenic |
Missense variant, intron variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant |
rs373534546 |
G>A,T |
Conflicting-interpretations-of-pathogenicity |
Missense variant, downstream transcript variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant |
rs373594717 |
A>C,G,T |
Likely-pathogenic |
Upstream transcript variant, genic upstream transcript variant, missense variant, initiator codon variant, non coding transcript variant, 5 prime UTR variant |
rs377147994 |
G>A |
Pathogenic |
Splice donor variant |
rs398123679 |
G>A |
Conflicting-interpretations-of-pathogenicity, likely-pathogenic |
Missense variant, intron variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant |
rs398123680 |
T>C |
Likely-pathogenic |
Missense variant, intron variant, downstream transcript variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant |
rs398123681 |
C>G,T |
Uncertain-significance, pathogenic-likely-pathogenic |
Missense variant, intron variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant, stop gained |
rs398123682 |
TG>- |
Likely-pathogenic, pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
rs398123683 |
T>C |
Pathogenic |
Splice donor variant |
rs398123684 |
G>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
rs540375168 |
G>A |
Pathogenic |
Stop gained, coding sequence variant, non coding transcript variant |
rs566691073 |
T>C,G |
Likely-pathogenic, uncertain-significance |
Genic upstream transcript variant, 5 prime UTR variant, upstream transcript variant, initiator codon variant, non coding transcript variant, missense variant |
rs745629936 |
G>A |
Likely-pathogenic |
Downstream transcript variant, splice donor variant, genic downstream transcript variant |
rs757261752 |
A>C,T |
Likely-pathogenic |
Initiator codon variant, missense variant, 5 prime UTR variant, upstream transcript variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant |
rs759159766 |
->G |
Pathogenic |
Downstream transcript variant, coding sequence variant, frameshift variant, non coding transcript variant, genic downstream transcript variant |
rs763422682 |
T>C |
Conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant, intron variant, non coding transcript variant, genic downstream transcript variant |
rs763471771 |
G>A |
Pathogenic |
Splice donor variant |
rs765815516 |
C>T |
Pathogenic |
Intron variant, non coding transcript variant, stop gained, coding sequence variant |
rs769048174 |
T>- |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
rs771914739 |
A>C,G |
Likely-pathogenic |
Splice acceptor variant |
rs773560012 |
A>G |
Pathogenic-likely-pathogenic |
Intron variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant, missense variant |
rs776015412 |
C>T |
Likely-pathogenic |
Stop gained, coding sequence variant, non coding transcript variant |
rs776608445 |
C>G,T |
Pathogenic, uncertain-significance |
Intron variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant, missense variant |
rs781630355 |
T>- |
Pathogenic, conflicting-interpretations-of-pathogenicity |
Frameshift variant, coding sequence variant, non coding transcript variant |
rs786204427 |
CA>GG |
Likely-pathogenic |
Intron variant, splice acceptor variant |
rs786204613 |
T>- |
Pathogenic-likely-pathogenic, likely-pathogenic |
Intron variant, coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
rs796051982 |
->GTG |
Likely-pathogenic |
Inframe insertion, coding sequence variant, non coding transcript variant |
rs796051983 |
C>T |
Likely-pathogenic |
Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant |
rs907414760 |
G>A,C |
Likely-pathogenic |
5 prime UTR variant, genic upstream transcript variant, non coding transcript variant, missense variant, upstream transcript variant, coding sequence variant, stop gained |
rs928991928 |
G>A,C |
Likely-pathogenic |
5 prime UTR variant, upstream transcript variant, splice donor variant, non coding transcript variant, genic upstream transcript variant |
rs982218848 |
G>A |
Pathogenic |
Genic downstream transcript variant, intron variant, non coding transcript variant, missense variant, coding sequence variant |
rs1057516769 |
->T |
Likely-pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
rs1057517043 |
G>A |
Likely-pathogenic |
Splice acceptor variant |
rs1057517056 |
A>G |
Likely-pathogenic |
Intron variant, genic downstream transcript variant, splice acceptor variant |
rs1057517379 |
CG>- |
Likely-pathogenic |
Frameshift variant, genic upstream transcript variant, 5 prime UTR variant, upstream transcript variant, non coding transcript variant, coding sequence variant |
rs1057524715 |
T>A |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
rs1237032588 |
C>T |
Pathogenic |
Missense variant, intron variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant |
rs1364046355 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
rs1398838997 |
G>A |
Likely-pathogenic |
Splice acceptor variant |
rs1477527791 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, coding sequence variant, missense variant, non coding transcript variant, intron variant |
rs1555403211 |
->ATGG |
Likely-pathogenic |
Coding sequence variant, intron variant, non coding transcript variant, frameshift variant |
rs1555403942 |
ACACGCTAATCTCACAGTGCAACCACCAACTAAAAGATACCCTCTCCCCTTGGGGGCCAGTCAGACCTGCTTTCTGTAGCATGCTGCCATGAACCAAATGTGGTTAGGAAGGGGCCATGGATTGCTTTAAAATACTTGAGCCAAAAATAATAAAAATAGGACCAGAACTCTTGCATTGAACAACAGACAGACAACATTTGAAGAGAACTCTAAGAAATGGAAGAGTAGGACTAGCTTCCTTTGCAAAGGGAATGG |
Likely-pathogenic |
Splice acceptor variant, coding sequence variant, non coding transcript variant, intron variant |
rs1555404010 |
G>A |
Likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
rs1555404426 |
->T |
Likely-pathogenic |
Stop gained, coding sequence variant, non coding transcript variant |
rs1555404784 |
G>A |
Likely-pathogenic |
Splice acceptor variant, 3 prime UTR variant, non coding transcript variant |
rs1555405067 |
G>T |
Likely-pathogenic |
Splice acceptor variant, intron variant, genic downstream transcript variant |
rs1555405070 |
A>- |
Likely-pathogenic |
Genic downstream transcript variant, coding sequence variant, frameshift variant, non coding transcript variant, intron variant |
rs1555405080 |
C>- |
Likely-pathogenic |
Genic downstream transcript variant, coding sequence variant, frameshift variant, non coding transcript variant, intron variant |
rs1555405428 |
GGCGGCTGGTCATCGGCAGAGCCTTCAA>- |
Likely-pathogenic |
Genic downstream transcript variant, coding sequence variant, frameshift variant, non coding transcript variant, intron variant |
rs1566936542 |
C>- |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
rs1595786853 |
A>T |
Likely-pathogenic |
Non coding transcript variant, downstream transcript variant, missense variant, coding sequence variant, genic downstream transcript variant |
rs1595797766 |
A>- |
Pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, frameshift variant, genic downstream transcript variant |
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