| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs121434502 |
C>T |
Pathogenic |
Coding sequence variant, missense variant |
|
rs121434503 |
C>T |
Pathogenic, risk-factor |
Coding sequence variant, missense variant |
|
rs121434504 |
A>G |
Pathogenic |
Coding sequence variant, missense variant |
|
rs138022657 |
A>G |
Conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant, genic downstream transcript variant |
|
rs138540027 |
T>C |
Conflicting-interpretations-of-pathogenicity |
Intron variant |
|
rs140280672 |
C>A,T |
Benign, likely-benign, likely-pathogenic |
Genic downstream transcript variant, coding sequence variant, missense variant |
|
rs142768885 |
T>G |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, genic downstream transcript variant, coding sequence variant, 3 prime UTR variant, intron variant |
|
rs144573168 |
C>G |
Conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
|
rs148596328 |
A>G |
Conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant, genic downstream transcript variant |
|
rs1060499624 |
C>G |
Likely-pathogenic |
Missense variant, coding sequence variant, genic downstream transcript variant, intron variant |
|
rs1131691596 |
G>A |
Likely-pathogenic |
3 prime UTR variant, intron variant, genic downstream transcript variant, missense variant, coding sequence variant |