| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
| rs1800053 |
C>A |
Pathogenic, uncertain-significance, likely-benign |
Coding sequence variant, missense variant, genic downstream transcript variant |
| rs9332969 |
G>A,T |
Pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
| rs9332970 |
T>C |
Pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
| rs9332971 |
G>A,T |
Pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
| rs104894742 |
G>A |
Pathogenic |
Coding sequence variant, 5 prime UTR variant, missense variant |
| rs112374098 |
C>A,T |
Pathogenic |
Coding sequence variant, stop gained, 5 prime UTR variant, missense variant |
| rs137852562 |
C>T |
Pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
| rs137852563 |
G>A |
Pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant |
| rs137852564 |
G>A,T |
Pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
| rs137852565 |
G>A,C |
Pathogenic |
Coding sequence variant, stop gained, missense variant, genic downstream transcript variant |
| rs137852566 |
A>T |
Pathogenic |
Coding sequence variant, stop gained, missense variant |
| rs137852567 |
A>G |
Pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
| rs137852568 |
A>T |
Pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant |
| rs137852569 |
G>A |
Pathogenic |
Coding sequence variant, missense variant |
| rs137852570 |
A>G |
Pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
| rs137852571 |
G>A |
Pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
| rs137852572 |
G>A |
Pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
| rs137852573 |
G>A |
Pathogenic, likely-pathogenic |
Coding sequence variant, 3 prime UTR variant, missense variant |
| rs137852574 |
T>G |
Pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
| rs137852575 |
C>T |
Pathogenic |
Coding sequence variant, stop gained, 5 prime UTR variant |
| rs137852576 |
G>A |
Pathogenic |
Coding sequence variant, 3 prime UTR variant, missense variant |
| rs137852577 |
C>T |
Pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
| rs137852578 |
A>G |
Pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
| rs137852579 |
T>C |
Pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
| rs137852580 |
C>G,T |
Pathogenic, uncertain-significance |
Coding sequence variant, missense variant, genic downstream transcript variant |
| rs137852581 |
C>T |
Pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
| rs137852582 |
A>G |
Pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
| rs137852583 |
G>A |
Pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
| rs137852584 |
G>A |
Pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
| rs137852585 |
T>G |
Pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
| rs137852586 |
G>A,T |
Pathogenic |
Coding sequence variant, intron variant, missense variant |
| rs137852587 |
T>A |
Pathogenic |
Coding sequence variant, intron variant, missense variant |
| rs137852588 |
C>T |
Pathogenic |
Coding sequence variant, intron variant, missense variant |
| rs137852589 |
G>A,T |
Pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
| rs137852590 |
T>G |
Pathogenic |
Coding sequence variant, stop gained, 5 prime UTR variant |
| rs137852591 |
C>G |
Pathogenic, likely-pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
| rs137852592 |
T>C |
Pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
| rs137852593 |
G>A,C,T |
Pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
| rs137852594 |
C>T |
Pathogenic |
Coding sequence variant, synonymous variant, genic downstream transcript variant |
| rs137852595 |
C>A,T |
Pathogenic, likely-pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
| rs137852596 |
G>A |
Pathogenic |
Coding sequence variant, intron variant, missense variant |
| rs137852597 |
T>C |
Pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
| rs137852598 |
C>G,T |
Pathogenic |
Coding sequence variant, synonymous variant, missense variant, genic downstream transcript variant |
| rs137852599 |
A>C |
Pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
| rs137852600 |
G>A,T |
Pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
| rs137852601 |
C>G |
Pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
| rs143040492 |
C>T |
Pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
| rs201934623 |
C>T |
Uncertain-significance, benign, pathogenic |
5 prime UTR variant, coding sequence variant, missense variant |
| rs370215797 |
G>A |
Pathogenic |
5 prime UTR variant, coding sequence variant, missense variant |
| rs750324117 |
G>A,T |
Pathogenic |
Stop gained, missense variant, 5 prime UTR variant, coding sequence variant |
| rs754201976 |
G>A |
Pathogenic |
Missense variant, coding sequence variant, 3 prime UTR variant |
| rs754515125 |
C>A,G,T |
Pathogenic |
Intron variant, genic downstream transcript variant |
| rs755226547 |
A>G,T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant, genic downstream transcript variant |
| rs759327087 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant, 5 prime UTR variant |
| rs766161615 |
C>G,T |
Pathogenic |
Synonymous variant, coding sequence variant, 5 prime UTR variant, stop gained |
| rs864622007 |
T>A |
Likely-pathogenic |
Missense variant, genic downstream transcript variant, coding sequence variant |
| rs869320731 |
GC>- |
Pathogenic |
Frameshift variant, 5 prime UTR variant, coding sequence variant |
| rs869320732 |
AGGATGC>TTCGCCCCTGA |
Pathogenic |
Genic downstream transcript variant, frameshift variant, coding sequence variant |
| rs878853033 |
T>G |
Pathogenic |
Missense variant, 3 prime UTR variant, coding sequence variant |
| rs886039558 |
C>T |
Pathogenic |
Stop gained, genic downstream transcript variant, coding sequence variant |
| rs886041050 |
T>C |
Likely-pathogenic |
Intron variant, missense variant, coding sequence variant |
| rs886041128 |
C>T |
Pathogenic |
Stop gained, 3 prime UTR variant, coding sequence variant |
| rs886041129 |
C>T |
Pathogenic |
Stop gained, 5 prime UTR variant, coding sequence variant |
| rs886041130 |
G>A |
Pathogenic |
Splice acceptor variant, genic downstream transcript variant |
| rs886041131 |
T>- |
Pathogenic |
Genic downstream transcript variant, frameshift variant, coding sequence variant |
| rs886041132 |
C>T |
Pathogenic |
Missense variant, genic downstream transcript variant, coding sequence variant |
| rs886041133 |
G>A,C |
Likely-pathogenic, pathogenic |
Missense variant, genic downstream transcript variant, coding sequence variant |
| rs886041352 |
A>C |
Pathogenic |
Missense variant, genic downstream transcript variant, coding sequence variant |
| rs925822435 |
A>C,G |
Pathogenic |
Missense variant, coding sequence variant, genic downstream transcript variant |
| rs1057518177 |
CCATTGAGCCAGGTGTAG>- |
Pathogenic |
Coding sequence variant, inframe deletion, genic downstream transcript variant |
| rs1057521121 |
G>A,C |
Likely-pathogenic |
Missense variant, coding sequence variant, intron variant |
| rs1057521122 |
A>G |
Likely-pathogenic |
Missense variant, coding sequence variant, genic downstream transcript variant |
| rs1057523747 |
G>A,T |
Likely-pathogenic, pathogenic |
Missense variant, coding sequence variant, genic downstream transcript variant |
| rs1064793480 |
G>A |
Pathogenic |
Missense variant, coding sequence variant, genic downstream transcript variant |
| rs1064793645 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant |
| rs1064794065 |
C>A |
Pathogenic |
Missense variant, coding sequence variant, genic downstream transcript variant |
| rs1064794069 |
G>A |
Pathogenic |
Splice acceptor variant, genic downstream transcript variant |
| rs1064795250 |
C>A |
Likely-pathogenic |
Missense variant, coding sequence variant, genic downstream transcript variant |
| rs1085307685 |
A>G |
Pathogenic |
Missense variant, coding sequence variant, genic downstream transcript variant |
| rs1085307962 |
C>T |
Likely-pathogenic |
Missense variant, coding sequence variant, genic downstream transcript variant |
| rs1131691625 |
T>A |
Pathogenic |
Missense variant, coding sequence variant, genic downstream transcript variant |
| rs1131691681 |
T>A |
Likely-pathogenic |
Missense variant, coding sequence variant, genic downstream transcript variant |
| rs1131691710 |
->TGCC |
Pathogenic |
Frameshift variant, coding sequence variant, 5 prime UTR variant |
| rs1131691761 |
C>A |
Pathogenic |
Coding sequence variant, stop gained, 5 prime UTR variant |
| rs1199988820 |
C>G,T |
Pathogenic |
5 prime UTR variant, missense variant, stop gained, coding sequence variant |
| rs1266872442 |
G>C |
Likely-pathogenic |
3 prime UTR variant, coding sequence variant, missense variant |
| rs1386577803 |
G>A |
Pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
| rs1481151440 |
C>A,T |
Pathogenic |
Synonymous variant, stop gained, 5 prime UTR variant, coding sequence variant |
| rs1555969382 |
->TGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGC |
Pathogenic |
Stop gained, 5 prime UTR variant, coding sequence variant, inframe indel |
| rs1555969512 |
C>T |
Pathogenic |
Stop gained, 5 prime UTR variant, coding sequence variant |
| rs1555969528 |
C>T |
Pathogenic |
Stop gained, 5 prime UTR variant, coding sequence variant |
| rs1555969545 |
C>T |
Pathogenic |
Stop gained, 5 prime UTR variant, coding sequence variant |
| rs1555969553 |
C>T |
Pathogenic |
Stop gained, 5 prime UTR variant, coding sequence variant |
| rs1555969670 |
->CCATT |
Pathogenic |
5 prime UTR variant, coding sequence variant, frameshift variant |
| rs1555969682 |
G>T |
Pathogenic |
Missense variant, 5 prime UTR variant, coding sequence variant |
| rs1555969684 |
->G |
Pathogenic |
5 prime UTR variant, coding sequence variant, frameshift variant |
| rs1555969694 |
->G |
Pathogenic |
5 prime UTR variant, coding sequence variant, frameshift variant |
| rs1555969807 |
C>A |
Pathogenic |
Stop gained, 5 prime UTR variant, coding sequence variant |
| rs1555970004 |
->C |
Pathogenic |
5 prime UTR variant, coding sequence variant, frameshift variant |
| rs1555970042 |
C>A |
Pathogenic |
Stop gained, 5 prime UTR variant, coding sequence variant |
| rs1555982860 |
G>A |
Pathogenic |
Intron variant, missense variant, coding sequence variant |
| rs1555982894 |
T>C |
Pathogenic, likely-pathogenic |
Intron variant, splice donor variant |
| rs1555990470 |
G>A |
Likely-pathogenic |
3 prime UTR variant, missense variant, coding sequence variant |
| rs1555990485 |
C>T |
Pathogenic |
3 prime UTR variant, missense variant, coding sequence variant |
| rs1555990488 |
T>C |
Likely-pathogenic |
3 prime UTR variant, missense variant, coding sequence variant |
| rs1555995750 |
C>- |
Pathogenic |
Genic downstream transcript variant, frameshift variant, coding sequence variant |
| rs1555995816 |
G>A |
Pathogenic |
Genic downstream transcript variant, missense variant, coding sequence variant |
| rs1555995822 |
G>A |
Likely-pathogenic |
Genic downstream transcript variant, missense variant, coding sequence variant |
| rs1555995840 |
G>A |
Pathogenic |
Genic downstream transcript variant, missense variant, coding sequence variant |
| rs1555995842 |
C>A |
Likely-pathogenic |
Genic downstream transcript variant, missense variant, coding sequence variant |
| rs1555995848 |
G>T |
Likely-pathogenic |
Genic downstream transcript variant, missense variant, coding sequence variant |
| rs1555995851 |
C>T |
Pathogenic |
Genic downstream transcript variant, missense variant, coding sequence variant |
| rs1555995865 |
T>C |
Pathogenic |
Genic downstream transcript variant, missense variant, coding sequence variant |
| rs1555995877 |
C>T |
Pathogenic |
Genic downstream transcript variant, missense variant, coding sequence variant |
| rs1555996810 |
T>C |
Pathogenic |
Genic downstream transcript variant, missense variant, coding sequence variant |
| rs1555996855 |
A>- |
Pathogenic |
Genic downstream transcript variant, frameshift variant, coding sequence variant |
| rs1555996863 |
G>A |
Pathogenic |
Genic downstream transcript variant, missense variant, coding sequence variant |
| rs1555996867 |
C>G |
Pathogenic |
Genic downstream transcript variant, missense variant, coding sequence variant |
| rs1555997580 |
C>T |
Pathogenic |
Genic downstream transcript variant, stop gained, coding sequence variant |
| rs1555997625 |
C>T |
Uncertain-significance, pathogenic |
Genic downstream transcript variant, missense variant, coding sequence variant |
| rs1555997626 |
T>C |
Pathogenic |
Genic downstream transcript variant, missense variant, coding sequence variant |
| rs1555997799 |
AA>- |
Pathogenic |
Genic downstream transcript variant, frameshift variant, coding sequence variant |
| rs1555997810 |
G>A |
Pathogenic |
Genic downstream transcript variant, missense variant, coding sequence variant |
| rs1555998085 |
G>- |
Pathogenic |
Genic downstream transcript variant, frameshift variant, coding sequence variant |
| rs1555998102 |
ATG>- |
Pathogenic |
Genic downstream transcript variant, inframe deletion, coding sequence variant |
| rs1555998108 |
A>T |
Likely-pathogenic |
Genic downstream transcript variant, missense variant, coding sequence variant |
| rs1555998114 |
TC>- |
Pathogenic |
Genic downstream transcript variant, frameshift variant, coding sequence variant |
| rs1569263557 |
GCAGC>TT |
Pathogenic |
Coding sequence variant, stop gained, inframe indel, 5 prime UTR variant |
| rs1569264288 |
->CCGCTGTGCGTCCCAC |
Pathogenic |
Coding sequence variant, frameshift variant, 5 prime UTR variant |
| rs1569265331 |
CTCG>- |
Pathogenic |
Coding sequence variant, frameshift variant, 5 prime UTR variant |
| rs1569265470 |
->G |
Pathogenic |
Coding sequence variant, frameshift variant, 5 prime UTR variant |
| rs1569314508 |
G>C |
Pathogenic |
Splice donor variant, genic downstream transcript variant |
| rs1602143232 |
->TAG |
Pathogenic |
Coding sequence variant, stop gained, 5 prime UTR variant |
| rs1602143677 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant, 5 prime UTR variant |
| rs1602144034 |
GGCGTTGGAG>- |
Pathogenic |
Coding sequence variant, frameshift variant, 5 prime UTR variant |
| rs1602144278 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant, 5 prime UTR variant |
| rs1602144428 |
GTCT>- |
Pathogenic |
Coding sequence variant, frameshift variant, 5 prime UTR variant |
| rs1602144930 |
CT>- |
Pathogenic |
Coding sequence variant, frameshift variant, 5 prime UTR variant |
| rs1602220874 |
TC>- |
Pathogenic |
Coding sequence variant, frameshift variant, intron variant |
| rs1602272308 |
A>T |
Pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant |
| rs1602272697 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant, genic downstream transcript variant |
| rs1602276233 |
G>A |
Likely-pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
| rs1602278831 |
G>T |
Pathogenic |
Genic downstream transcript variant, intron variant |
| rs1602279488 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant, genic downstream transcript variant |
| rs1602280356 |
C>A,T |
Pathogenic, uncertain-significance |
Coding sequence variant, missense variant, genic downstream transcript variant |