| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs61978576 |
A>G |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, non coding transcript variant, 5 prime UTR variant, missense variant |
|
rs116076204 |
G>A,C |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, non coding transcript variant, coding sequence variant |
|
rs183478189 |
A>C |
Pathogenic |
Genic upstream transcript variant, non coding transcript variant, stop gained, upstream transcript variant, coding sequence variant |
|
rs190673127 |
C>A,T |
Pathogenic, uncertain-significance |
Missense variant, genic upstream transcript variant, non coding transcript variant, stop gained, upstream transcript variant, coding sequence variant |
|
rs200530606 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Missense variant, genic upstream transcript variant, non coding transcript variant, upstream transcript variant, coding sequence variant |
|
rs201757275 |
T>C |
Likely-pathogenic |
Missense variant, genic upstream transcript variant, non coding transcript variant, upstream transcript variant, coding sequence variant |
|
rs587776939 |
G>A |
Pathogenic |
Non coding transcript variant, stop gained, coding sequence variant |
|
rs587776940 |
G>A,C |
Pathogenic |
Non coding transcript variant, stop gained, coding sequence variant, missense variant |
|
rs587776941 |
C>A |
Pathogenic |
Non coding transcript variant, stop gained, coding sequence variant, 5 prime UTR variant |
|
rs587776942 |
G>A |
Pathogenic |
Non coding transcript variant, stop gained, coding sequence variant |
|
rs746885334 |
G>A,C |
Pathogenic |
Coding sequence variant, stop gained, non coding transcript variant, intron variant, missense variant, 5 prime UTR variant |
|
rs755928939 |
C>T |
Likely-pathogenic |
Genic upstream transcript variant, upstream transcript variant, splice acceptor variant |
|
rs759625169 |
G>A |
Pathogenic |
Non coding transcript variant, stop gained, coding sequence variant, 5 prime UTR variant |
|
rs762639913 |
GAAG>- |
Pathogenic |
Stop gained, genic upstream transcript variant, non coding transcript variant, coding sequence variant |
|
rs763614919 |
C>A,T |
Pathogenic |
Missense variant, non coding transcript variant, stop gained, coding sequence variant |
|
rs763788808 |
C>A |
Pathogenic |
Genic upstream transcript variant, splice donor variant |
|
rs767638289 |
G>A,C |
Pathogenic |
Coding sequence variant, non coding transcript variant, upstream transcript variant, stop gained, genic upstream transcript variant, missense variant |
|
rs780889226 |
G>A |
Pathogenic-likely-pathogenic |
Non coding transcript variant, stop gained, coding sequence variant |
|
rs863225064 |
G>A |
Pathogenic-likely-pathogenic |
Non coding transcript variant, stop gained, coding sequence variant |
|
rs866435487 |
G>A |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, upstream transcript variant, stop gained, genic upstream transcript variant |
|
rs886043244 |
C>A |
Pathogenic |
Genic upstream transcript variant, splice donor variant |
|
rs886276412 |
C>A,T |
Pathogenic |
Coding sequence variant, non coding transcript variant, missense variant, stop gained |
|
rs912986968 |
G>A |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained, 5 prime UTR variant |
|
rs961245497 |
G>A |
Likely-pathogenic |
Coding sequence variant, genic upstream transcript variant, non coding transcript variant, stop gained |
|
rs986592823 |
G>A |
Likely-pathogenic |
Coding sequence variant, stop gained, non coding transcript variant |
|
rs1057519318 |
T>- |
Likely-pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
|
rs1064795230 |
CA>- |
Likely-pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
|
rs1064795606 |
A>G |
Likely-pathogenic |
Splice donor variant |
|
rs1085308062 |
->C |
Pathogenic |
Frameshift variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant |
|
rs1135402727 |
A>- |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
|
rs1135402728 |
A>G |
Pathogenic |
Genic upstream transcript variant, initiator codon variant, non coding transcript variant, missense variant |
|
rs1135402729 |
C>T |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
|
rs1135402730 |
C>T |
Pathogenic |
Non coding transcript variant, coding sequence variant, synonymous variant |
|
rs1135402731 |
G>- |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
|
rs1135402732 |
T>C |
Pathogenic |
Genic upstream transcript variant, initiator codon variant, non coding transcript variant, missense variant |
|
rs1135402733 |
T>C |
Pathogenic |
5 prime UTR variant, non coding transcript variant, coding sequence variant, synonymous variant |
|
rs1135402734 |
G>- |
Pathogenic |
Genic upstream transcript variant, stop gained, non coding transcript variant, coding sequence variant |
|
rs1135402735 |
C>G |
Pathogenic |
Splice donor variant |
|
rs1135402736 |
G>A |
Pathogenic |
Missense variant, intron variant, non coding transcript variant, coding sequence variant |
|
rs1203870830 |
T>A,C |
Pathogenic |
Non coding transcript variant, stop gained, missense variant, coding sequence variant, genic upstream transcript variant |
|
rs1470797555 |
C>T |
Pathogenic |
Genic upstream transcript variant, splice acceptor variant |
|
rs1479239564 |
G>C |
Likely-pathogenic |
Non coding transcript variant, 5 prime UTR variant, missense variant, coding sequence variant |
|
rs1483969601 |
->TT |
Pathogenic |
Genic upstream transcript variant, non coding transcript variant, coding sequence variant, upstream transcript variant, frameshift variant |
|
rs1555667231 |
->AATG |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1555668791 |
G>- |
Likely-pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1555671254 |
G>- |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1555673890 |
->GAGTTTATCACCAATTCCCCTTCAATAA |
Pathogenic |
Non coding transcript variant, stop gained, inframe indel, coding sequence variant |
|
rs1555673917 |
C>T |
Pathogenic |
Non coding transcript variant, stop gained, coding sequence variant |
|
rs1555681647 |
C>A |
Pathogenic |
Genic upstream transcript variant, non coding transcript variant, coding sequence variant, upstream transcript variant, stop gained |
|
rs1568103027 |
->ACTG |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs1568107449 |
C>T |
Pathogenic-likely-pathogenic |
Coding sequence variant, stop gained, non coding transcript variant |
|
rs1568112516 |
G>C |
Likely-pathogenic |
Coding sequence variant, stop gained, non coding transcript variant, intron variant |
|
rs1568112543 |
C>T |
Likely-pathogenic |
Coding sequence variant, stop gained, non coding transcript variant, intron variant |
|
rs1568118775 |
G>C |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs1568133724 |
G>A |
Likely-pathogenic |
Coding sequence variant, stop gained, non coding transcript variant |
|
rs1568133760 |
A>T |
Likely-pathogenic |
Coding sequence variant, stop gained, non coding transcript variant |
|
rs1568142333 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs1568150793 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs1568168835 |
C>T |
Likely-pathogenic |
Coding sequence variant, 5 prime UTR variant, stop gained, non coding transcript variant |
|
rs1568183567 |
G>A |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, stop gained, non coding transcript variant |
|
rs1599445663 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs1599447883 |
GACA>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs1599474108 |
T>C |
Pathogenic |
Splice acceptor variant |
|
rs1599536432 |
CA>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |