| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
| rs367658234 |
G>A,C,T |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, genic downstream transcript variant, synonymous variant, missense variant |
| rs546151500 |
G>A,T |
Likely-pathogenic |
Synonymous variant, genic downstream transcript variant, coding sequence variant, stop gained |
| rs748323893 |
C>T |
Pathogenic-likely-pathogenic |
Genic downstream transcript variant, coding sequence variant, synonymous variant |
| rs756225038 |
G>A |
Likely-pathogenic |
Genic downstream transcript variant, coding sequence variant, missense variant |
| rs776031837 |
G>- |
Pathogenic-likely-pathogenic |
Coding sequence variant, frameshift variant, genic downstream transcript variant |
| rs1275959058 |
C>A,T |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant, genic downstream transcript variant |
| rs1447313633 |
TT>- |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, frameshift variant |
| rs1559296368 |
C>- |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, frameshift variant |
| rs1575060677 |
C>- |
Pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant |
|