| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs200979563 |
G>A,T |
Pathogenic |
Stop gained, missense variant, coding sequence variant |
|
rs724159973 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs724159974 |
A>T |
Pathogenic |
Missense variant, coding sequence variant |
|
rs727502806 |
C>G |
Pathogenic |
Missense variant, coding sequence variant |
|
rs763428520 |
A>G,T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
|
rs780843272 |
G>A,C |
Pathogenic |
Coding sequence variant, stop gained, missense variant |
|
rs781210585 |
C>G,T |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs886041666 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1114167275 |
->CAATGCACATCC |
Pathogenic |
Inframe indel, coding sequence variant |
|
rs1555493906 |
A>G |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1555494222 |
A>T |
Likely-pathogenic |
Splice donor variant |
|
rs1555494259 |
C>A |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1567378099 |
C>A |
Likely-pathogenic |
Stop gained, coding sequence variant |
|
rs1567379470 |
T>C |
Likely-pathogenic |
Splice acceptor variant |
|
rs1567379671 |
->TT |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1596714308 |
C>T |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs1596714579 |
CAA>- |
Likely-pathogenic |
Inframe indel, coding sequence variant |
|
rs1596714750 |
TG>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs1596716888 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1596717264 |
C>T |
Likely-pathogenic |
Splice donor variant |
|
rs1596719437 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |