| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs76537761 |
G>A |
Uncertain-significance, benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
|
rs121908007 |
G>A |
Pathogenic, likely-pathogenic |
Coding sequence variant, missense variant |
|
rs121908008 |
C>A |
Pathogenic |
Coding sequence variant, missense variant |
|
rs121908009 |
G>A |
Pathogenic |
Coding sequence variant, missense variant |
|
rs141735896 |
C>T |
Conflicting-interpretations-of-pathogenicity, benign |
Missense variant, coding sequence variant |
|
rs144064367 |
G>A |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs202085145 |
G>T |
Benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
|
rs747461754 |
C>G |
Pathogenic |
Coding sequence variant, stop gained |
|
rs748900391 |
TG>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs770792767 |
G>T |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs773937413 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs776356158 |
G>A |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs781081194 |
C>A,T |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs794729211 |
T>A |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1555198521 |
G>-,GG |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1565798380 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1565799723 |
CG>AC |
Pathogenic |
Missense variant, coding sequence variant |
|
rs1565799921 |
C>T |
Pathogenic-likely-pathogenic |
Missense variant, coding sequence variant |