| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
| rs74555752 |
T>G |
Pathogenic |
Missense variant, coding sequence variant |
| rs75184679 |
G>A |
Pathogenic-likely-pathogenic, pathogenic |
Missense variant, coding sequence variant |
| rs75186889 |
G>- |
Pathogenic |
5 prime UTR variant, splice donor variant, coding sequence variant |
| rs75325951 |
T>G |
Likely-pathogenic |
5 prime UTR variant, missense variant, coding sequence variant |
| rs77301371 |
G>A |
Pathogenic |
Splice donor variant |
| rs78705382 |
C>T |
Uncertain-significance, likely-pathogenic |
5 prime UTR variant, missense variant, coding sequence variant |
| rs79310911 |
C>T |
Likely-pathogenic |
Missense variant, coding sequence variant |
| rs146451037 |
A>G |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign |
Missense variant, coding sequence variant |
| rs367915667 |
G>A |
Likely-pathogenic |
Splice donor variant |
| rs372632599 |
C>G,T |
Pathogenic |
Stop gained, coding sequence variant, missense variant |
| rs777313709 |
G>A |
Pathogenic |
Splice acceptor variant |
| rs778933609 |
T>C,G |
Likely-pathogenic |
Coding sequence variant, missense variant |
| rs786205483 |
A>G |
Pathogenic-likely-pathogenic, likely-pathogenic |
Missense variant, coding sequence variant, 5 prime UTR variant |
| rs1057517815 |
A>G |
Likely-pathogenic |
Intron variant |
| rs1064797046 |
G>A |
Likely-pathogenic |
Intron variant |
| rs1342532406 |
G>A |
Likely-pathogenic |
Intron variant |
| rs1452451283 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant, 5 prime UTR variant |
| rs1555257383 |
G>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs1593470515 |
G>- |
Likely-pathogenic |
Coding sequence variant, splice donor variant |