| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs78042826 |
G>A,C |
Conflicting-interpretations-of-pathogenicity, benign, likely-benign |
Coding sequence variant, missense variant |
|
rs149271416 |
G>A |
Likely-pathogenic, pathogenic |
Missense variant, coding sequence variant |
|
rs151279101 |
C>T |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs199422224 |
T>C |
Pathogenic |
Coding sequence variant, missense variant |
|
rs199422225 |
G>A |
Pathogenic |
Coding sequence variant, missense variant |
|
rs199422226 |
G>A,C |
Pathogenic |
Coding sequence variant, synonymous variant, missense variant |
|
rs201034481 |
C>T |
Likely-pathogenic |
Coding sequence variant, intron variant, missense variant |
|
rs370009373 |
T>G |
Pathogenic |
Splice acceptor variant |
|
rs370411488 |
A>G |
Pathogenic, likely-pathogenic |
Coding sequence variant, missense variant |
|
rs372691318 |
G>A,C |
Pathogenic |
Stop gained, coding sequence variant, missense variant |
|
rs387907199 |
T>C |
Pathogenic |
Coding sequence variant, missense variant |
|
rs397515383 |
GAT>- |
Pathogenic |
Coding sequence variant, inframe deletion |
|
rs397515447 |
C>T |
Pathogenic |
Coding sequence variant, missense variant |
|
rs747249702 |
A>C,G |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs750971390 |
G>A |
Pathogenic |
Intron variant, coding sequence variant, stop gained |
|
rs767122069 |
C>T |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs776114731 |
C>T |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs786205666 |
A>C |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs863224097 |
T>A |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs863224099 |
C>G |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs863224100 |
GTT>- |
Likely-pathogenic |
Coding sequence variant, inframe deletion |
|
rs863224103 |
C>T |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs1131692032 |
T>A |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1321888585 |
C>A,T |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1485032272 |
T>A,C |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1553503175 |
->CG |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs1553503177 |
GCTTATAG>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs1553506655 |
TA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1559047521 |
TTTAA>- |
Likely-pathogenic |
Intron variant |
|
rs1575944638 |
GA>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |