| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
| rs74552543 |
T>C |
Pathogenic |
Coding sequence variant, missense variant, genic upstream transcript variant |
| rs75267011 |
G>A |
Pathogenic-likely-pathogenic |
Coding sequence variant, genic upstream transcript variant, missense variant |
| rs75559353 |
C>T |
Pathogenic |
Coding sequence variant, stop gained, missense variant, genic downstream transcript variant |
| rs79424354 |
C>A |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, missense variant |
| rs80100937 |
C>T |
Pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant |
| rs746879923 |
C>-,CC |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, frameshift variant |
| rs786205530 |
C>T |
Likely-pathogenic |
Coding sequence variant, genic upstream transcript variant, missense variant |
| rs879255500 |
G>C |
Pathogenic |
Splice acceptor variant, genic downstream transcript variant |
| rs1432600424 |
C>G,T |
Pathogenic |
Stop gained, synonymous variant, coding sequence variant, genic downstream transcript variant |
| rs1574047005 |
T>C |
Likely-pathogenic |
Coding sequence variant, genic upstream transcript variant, missense variant |
| rs1574047454 |
G>T |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, missense variant |
|