| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
| rs534089911 |
C>A,T |
Pathogenic |
Missense variant, intron variant, coding sequence variant |
| rs751524927 |
G>A |
Likely-pathogenic |
Intron variant, coding sequence variant, missense variant |
| rs1174857008 |
G>A,C |
Pathogenic |
Missense variant, coding sequence variant, genic downstream transcript variant, downstream transcript variant |
| rs1227643933 |
G>A,T |
Pathogenic |
Missense variant, coding sequence variant |
| rs1572907400 |
CCACGGC>- |
Pathogenic |
Coding sequence variant, frameshift variant, genic downstream transcript variant, intron variant |
| rs1572907595 |
C>T |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, intron variant, stop gained |
| rs1573779765 |
A>- |
Pathogenic |
Coding sequence variant, intron variant, frameshift variant |
| rs1573856970 |
C>T |
Pathogenic |
Coding sequence variant, missense variant, 5 prime UTR variant |
| rs1573906351 |
T>G |
Pathogenic |
Coding sequence variant, missense variant, downstream transcript variant, genic downstream transcript variant |
| rs1573906389 |
G>A |
Pathogenic |
Coding sequence variant, missense variant, downstream transcript variant, genic downstream transcript variant |
|