| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs1227245973 |
C>T |
Likely-pathogenic |
Missense variant, coding sequence variant, genic upstream transcript variant |
|
rs1589440982 |
G>A |
Pathogenic, likely-pathogenic |
Coding sequence variant, genic upstream transcript variant, missense variant |
|
rs1589441229 |
T>G |
Pathogenic, likely-pathogenic |
Coding sequence variant, genic upstream transcript variant, missense variant |
|
rs1589441428 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant, genic upstream transcript variant |
|
rs1589441679 |
T>C |
Pathogenic, likely-pathogenic |
Coding sequence variant, genic upstream transcript variant, missense variant |
|
rs1589568476 |
C>G |
Pathogenic, likely-pathogenic |
Coding sequence variant, genic downstream transcript variant, genic upstream transcript variant, missense variant |
|
rs1589568530 |
C>G |
Likely-pathogenic |
Coding sequence variant, genic downstream transcript variant, genic upstream transcript variant, missense variant |
|
rs1589576879 |
G>A |
Pathogenic, likely-pathogenic |
Coding sequence variant, genic downstream transcript variant, missense variant |