| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
| rs113094436 |
G>A |
Likely-pathogenic |
Missense variant, coding sequence variant |
| rs200059198 |
G>A |
Pathogenic, likely-pathogenic |
Coding sequence variant, 5 prime UTR variant, stop gained |
| rs201894374 |
G>A |
Likely-pathogenic |
Coding sequence variant, missense variant |
| rs369608407 |
T>C |
Pathogenic, likely-pathogenic |
Coding sequence variant, intron variant, missense variant |
| rs749975104 |
G>A |
Pathogenic, likely-pathogenic |
Missense variant, intron variant, coding sequence variant |
| rs756467468 |
G>C,T |
Likely-pathogenic |
Missense variant, coding sequence variant |
| rs769243823 |
A>C,G |
Pathogenic, likely-pathogenic |
5 prime UTR variant, coding sequence variant, missense variant |
| rs770456604 |
C>A |
Likely-pathogenic |
Coding sequence variant, missense variant |
| rs775162839 |
C>T |
Pathogenic, pathogenic-likely-pathogenic |
Coding sequence variant, missense variant |
| rs779324355 |
T>A,C |
Likely-pathogenic |
Coding sequence variant, missense variant |
| rs1053767552 |
C>T |
Likely-pathogenic |
Coding sequence variant, missense variant |
| rs1186496501 |
A>G |
Likely-pathogenic |
Missense variant, coding sequence variant |
| rs1260191836 |
A>C,G |
Likely-pathogenic |
Stop gained, coding sequence variant, synonymous variant |
| rs1306655122 |
C>A,T |
Likely-pathogenic |
Missense variant, coding sequence variant, intron variant |
| rs1381665298 |
G>A |
Likely-pathogenic |
Coding sequence variant, stop gained, intron variant |
| rs1578264574 |
T>C |
Likely-pathogenic, pathogenic |
Coding sequence variant, missense variant |
| rs1578265048 |
T>C |
Likely-pathogenic |
Coding sequence variant, missense variant |
| rs1578265068 |
C>T |
Likely-pathogenic |
Coding sequence variant, missense variant |
| rs1578269200 |
C>G |
Likely-pathogenic |
Coding sequence variant, missense variant |
| rs1578269761 |
C>G |
Likely-pathogenic |
Coding sequence variant, missense variant |
| rs1578270476 |
A>G |
Likely-pathogenic |
Coding sequence variant, intron variant, missense variant |
| rs1578274054 |
C>T |
Likely-pathogenic, pathogenic |
Coding sequence variant, 5 prime UTR variant, missense variant |
| rs1578282133 |
A>G |
Likely-pathogenic |
Coding sequence variant, intron variant, missense variant |