SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs3218740 |
G>A |
Likely-benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign |
Synonymous variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant |
rs61749249 |
G>A,T |
Benign, uncertain-significance, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant, non coding transcript variant |
rs116679717 |
C>G,T |
Benign, conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance, benign-likely-benign |
Missense variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant |
rs137852759 |
G>A,C,T |
Pathogenic |
Synonymous variant, coding sequence variant, stop gained, missense variant, non coding transcript variant |
rs137852760 |
T>C |
Uncertain-significance, pathogenic-likely-pathogenic |
Coding sequence variant, non coding transcript variant, 5 prime UTR variant, missense variant |
rs137852761 |
G>A |
Likely-pathogenic, pathogenic |
Coding sequence variant, stop gained, non coding transcript variant |
rs137852762 |
G>A,T |
Uncertain-significance, pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
rs137852763 |
C>G |
Pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
rs137868143 |
A>G |
Likely-benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign |
Coding sequence variant, synonymous variant, non coding transcript variant |
rs139461096 |
C>T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, non coding transcript variant, missense variant |
rs145058858 |
A>G,T |
Likely-pathogenic |
Splice donor variant |
rs145415033 |
C>G |
Likely-benign, conflicting-interpretations-of-pathogenicity, benign |
Coding sequence variant, non coding transcript variant, intron variant, missense variant |
rs201572020 |
T>C |
Likely-pathogenic |
Splice acceptor variant, intron variant |
rs371455048 |
T>A |
Pathogenic |
Stop gained, coding sequence variant, non coding transcript variant |
rs372000848 |
G>A |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant, non coding transcript variant |
rs372068015 |
A>G |
Uncertain-significance, likely-pathogenic |
Missense variant, upstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant |
rs375261439 |
G>A,C |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant, non coding transcript variant |
rs377584386 |
G>C,T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Intron variant |
rs587780138 |
CATCACTATATT>- |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Intron variant, genic upstream transcript variant, upstream transcript variant, coding sequence variant, non coding transcript variant, splice acceptor variant |
rs587781381 |
A>T |
Pathogenic, likely-pathogenic |
Splice donor variant |
rs587781384 |
C>A,T |
Pathogenic, likely-pathogenic, conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant, non coding transcript variant, stop gained |
rs587781442 |
->GAAGTGGTAGGAAAAATGTC |
Pathogenic, pathogenic-likely-pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
rs587781822 |
T>C |
Likely-pathogenic |
Splice acceptor variant |
rs587781828 |
->A |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
rs587782030 |
G>A,T |
Pathogenic, uncertain-significance |
Coding sequence variant, missense variant, non coding transcript variant, stop gained |
rs587782308 |
G>A |
Likely-pathogenic, uncertain-significance |
Coding sequence variant, missense variant, non coding transcript variant |
rs730881752 |
AA>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
rs745677716 |
A>G |
Likely-pathogenic |
Splice donor variant, intron variant |
rs747832587 |
T>-,TT |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
rs757691558 |
TT>-,T,TTT |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
rs759130031 |
C>T |
Pathogenic, likely-pathogenic |
Splice donor variant |
rs767787348 |
T>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
rs768257868 |
G>A,T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Intron variant |
rs772019392 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, non coding transcript variant, synonymous variant |
rs774277300 |
G>A,C,T |
Uncertain-significance, pathogenic |
Non coding transcript variant, synonymous variant, stop gained, missense variant, coding sequence variant |
rs774440500 |
->T |
Likely-pathogenic, pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
rs776912688 |
G>A,C |
Pathogenic |
Missense variant, non coding transcript variant, coding sequence variant, stop gained |
rs779269083 |
C>A,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Stop gained, missense variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant |
rs780001540 |
G>A |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
rs786202032 |
AAA>T |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
rs786202253 |
TTTGAAGC>- |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
rs786202764 |
->G |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
rs786202801 |
A>T |
Uncertain-significance, likely-pathogenic |
Splice donor variant |
rs786203314 |
CT>TTAA |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
rs786203682 |
G>- |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
rs786203931 |
->G |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
rs863224508 |
A>- |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
rs863224896 |
C>A,T |
Likely-benign, likely-pathogenic |
Synonymous variant, missense variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant |
rs876658665 |
C>T |
Likely-pathogenic |
Splice donor variant |
rs876658917 |
C>T |
Likely-pathogenic |
Splice acceptor variant |
rs876659145 |
T>C |
Likely-pathogenic |
Splice acceptor variant |
rs876660186 |
CTCATAAG>- |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
rs876660269 |
->T |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant, intron variant |
rs878854776 |
T>C |
Likely-pathogenic |
Splice acceptor variant |
rs929767929 |
C>T |
Likely-pathogenic |
Splice donor variant |
rs951805101 |
A>C |
Pathogenic |
Non coding transcript variant, stop gained, coding sequence variant, 5 prime UTR variant |
rs984874083 |
T>A |
Pathogenic, likely-pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
rs1060501788 |
G>A,C |
Pathogenic, uncertain-significance |
Non coding transcript variant, stop gained, coding sequence variant, missense variant |
rs1157413766 |
G>A |
Pathogenic |
Non coding transcript variant, stop gained, coding sequence variant |
rs1157436927 |
G>A,C |
Pathogenic |
Non coding transcript variant, stop gained, coding sequence variant, missense variant |
rs1169667763 |
AAAGGTTCAAAACCTC>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
rs1180352898 |
G>A,T |
Pathogenic |
Stop gained, missense variant, non coding transcript variant, coding sequence variant |
rs1215450873 |
G>A |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
rs1245161888 |
GT>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
rs1264516058 |
G>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
rs1295485913 |
C>A |
Likely-pathogenic |
Splice acceptor variant |
rs1376550081 |
C>A |
Pathogenic |
Coding sequence variant, stop gained, non coding transcript variant |
rs1411087205 |
T>A,C,G |
Pathogenic, likely-benign |
Stop gained, synonymous variant, missense variant, coding sequence variant, non coding transcript variant |
rs1451215042 |
C>T |
Likely-pathogenic |
Splice acceptor variant |
rs1475506136 |
A>C |
Likely-pathogenic |
Splice donor variant |
rs1555002387 |
TTAC>- |
Likely-pathogenic |
Splice donor variant, intron variant |
rs1555002390 |
A>G |
Likely-pathogenic |
Splice donor variant |
rs1555002419 |
G>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
rs1555002450 |
T>G |
Likely-pathogenic |
Splice acceptor variant |
rs1555005270 |
TT>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
rs1555009931 |
->T |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
rs1555009945 |
T>G |
Likely-pathogenic |
Splice acceptor variant |
rs1555015413 |
TA>CCC |
Likely-pathogenic |
Splice donor variant, intron variant |
rs1555017184 |
CTGA>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant, 5 prime UTR variant |
rs1555017238 |
T>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant, 5 prime UTR variant |
rs1555017290 |
C>T |
Likely-pathogenic |
Splice acceptor variant |
rs1565228898 |
GA>- |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
rs1591634006 |
T>C |
Likely-pathogenic |
Splice acceptor variant |
rs1591652976 |
GTAG>- |
Pathogenic |
Intron variant, frameshift variant, coding sequence variant, non coding transcript variant |
rs1591672201 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
rs1591681273 |
->C |
Likely-pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
rs1591692886 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
rs1591693112 |
T>G |
Likely-pathogenic |
Splice acceptor variant |
rs1591703044 |
G>A |
Pathogenic |
Coding sequence variant, stop gained, non coding transcript variant |
rs1591718826 |
A>G |
Likely-pathogenic |
Intron variant, splice donor variant |
rs1591719208 |
->AATGT |
Pathogenic |
5 prime UTR variant, frameshift variant, coding sequence variant, non coding transcript variant |