| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
| rs61752113 |
T>G |
Pathogenic |
Coding sequence variant, missense variant |
| rs61752115 |
T>C |
Pathogenic |
Coding sequence variant, missense variant |
| rs104893661 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
| rs143378216 |
T>C |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant |
| rs143972531 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant |
| rs147707348 |
G>A |
Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, coding sequence variant |
| rs148296743 |
A>G |
Conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs201699810 |
G>A |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant |
| rs369851185 |
T>G |
Pathogenic |
Stop gained, coding sequence variant |
| rs373118250 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant |
| rs553968959 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs754460647 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant |
| rs1559035738 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |