| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
| rs150263896 |
C>T |
Pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs483353063 |
C>T |
Pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
| rs483353068 |
C>G,T |
Not-provided, pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
| rs483353069 |
T>G |
Likely-pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
| rs483353070 |
G>A |
Pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
| rs879255635 |
G>A |
Pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
| rs1064795382 |
T>C |
Likely-pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
| rs1560092224 |
T>A,C |
Pathogenic, likely-pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
| rs1560092633 |
A>G |
Likely-pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
| rs1576220405 |
T>G |
Pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
| rs1576220750 |
A>G |
Pathogenic, likely-pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
| rs1576220876 |
G>A |
Pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
| rs1576220938 |
T>G |
Pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
| rs1576220959 |
G>A |
Likely-pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
|