| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs118192247 |
C>T |
Pathogenic |
Missense variant, coding sequence variant, 5 prime UTR variant |
|
rs118192248 |
T>A,C |
Uncertain-significance, pathogenic |
Missense variant, coding sequence variant, 5 prime UTR variant |
|
rs118192249 |
A>G |
Pathogenic |
Missense variant, coding sequence variant, 5 prime UTR variant |
|
rs118192250 |
C>A |
Pathogenic |
Missense variant, coding sequence variant, 5 prime UTR variant |
|
rs118192251 |
G>A |
Likely-pathogenic, pathogenic |
Missense variant, coding sequence variant, 5 prime UTR variant |
|
rs118192252 |
T>C |
Pathogenic, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
|
rs118192254 |
T>C |
Likely-benign, benign, pathogenic, uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
|
rs143683496 |
C>T |
Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
|
rs147173555 |
G>A |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign |
Coding sequence variant, missense variant |
|
rs150821246 |
C>T |
Pathogenic, likely-benign |
Coding sequence variant, missense variant |
|
rs181746838 |
A>G |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant |
|
rs185511111 |
C>A,G,T |
Uncertain-significance, pathogenic |
Coding sequence variant, missense variant |
|
rs185628977 |
G>A,C |
Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant |
|
rs201328910 |
C>T |
Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
|
rs750375617 |
C>A,G,T |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant, 5 prime UTR variant |
|
rs754896169 |
C>T |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs762289015 |
T>-,TT |
Pathogenic, uncertain-significance |
Frameshift variant, coding sequence variant |
|
rs763446963 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant |
|
rs796052675 |
G>A,T |
Likely-benign, pathogenic |
Synonymous variant, 5 prime UTR variant, stop gained, coding sequence variant |
|
rs796052676 |
G>A |
Pathogenic-likely-pathogenic, pathogenic |
5 prime UTR variant, coding sequence variant, missense variant |
|
rs796052677 |
T>C |
Likely-pathogenic |
5 prime UTR variant, coding sequence variant, missense variant |
|
rs796052678 |
G>A |
Likely-pathogenic |
5 prime UTR variant, coding sequence variant, missense variant |
|
rs796052680 |
C>A,T |
Uncertain-significance, likely-pathogenic |
5 prime UTR variant, coding sequence variant, missense variant |
|
rs977989588 |
C>A |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant |
|
rs1064794632 |
C>G |
Likely-pathogenic |
Missense variant, coding sequence variant, 5 prime UTR variant |
|
rs1064795142 |
C>T |
Likely-pathogenic |
Missense variant, coding sequence variant, 5 prime UTR variant |
|
rs1085307996 |
C>A |
Likely-pathogenic |
Missense variant, coding sequence variant, 5 prime UTR variant |
|
rs1381851622 |
C>T |
Pathogenic |
Coding sequence variant, 5 prime UTR variant, missense variant |
|
rs1554626549 |
G>A |
Pathogenic |
Coding sequence variant, missense variant, 5 prime UTR variant |
|
rs1554627025 |
G>A |
Likely-pathogenic |
Coding sequence variant, missense variant, 5 prime UTR variant |
|
rs1554627439 |
A>G |
Likely-pathogenic |
Coding sequence variant, missense variant, 5 prime UTR variant |
|
rs1586800133 |
A>G |
Pathogenic, uncertain-significance |
Missense variant, 5 prime UTR variant, coding sequence variant |