| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs121909088 |
A>G |
Pathogenic, uncertain-significance |
Coding sequence variant, missense variant |
|
rs121909089 |
G>A,T |
Pathogenic, likely-pathogenic |
Coding sequence variant, missense variant |
|
rs121909090 |
C>T |
Pathogenic, likely-pathogenic |
Coding sequence variant, missense variant |
|
rs121909091 |
C>T |
Pathogenic |
Coding sequence variant, missense variant |
|
rs121909092 |
G>A |
Pathogenic |
Coding sequence variant, missense variant |
|
rs121909093 |
G>A,T |
Uncertain-significance, pathogenic, likely-pathogenic |
Coding sequence variant, missense variant |
|
rs121909094 |
T>A |
Pathogenic, uncertain-significance |
Coding sequence variant, missense variant |
|
rs121909095 |
C>G,T |
Pathogenic, likely-pathogenic |
Coding sequence variant, missense variant |
|
rs144250390 |
G>A |
Uncertain-significance, benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
|
rs148900299 |
C>A,T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, synonymous variant, coding sequence variant |
|
rs199927590 |
A>G |
Likely-pathogenic |
Missense variant, coding sequence variant, intron variant |
|
rs200191870 |
C>T |
Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance |
Synonymous variant, coding sequence variant |
|
rs201972896 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant |
|
rs201979143 |
C>G |
Likely-benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity |
Intron variant |
|
rs202155679 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
|
rs267606772 |
G>A |
Pathogenic, likely-pathogenic, pathogenic-likely-pathogenic |
Missense variant, coding sequence variant |
|
rs368075301 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant |
|
rs373161548 |
C>A,G,T |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Synonymous variant, coding sequence variant |
|
rs375151459 |
G>A,T |
Conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
|
rs397514735 |
T>G |
Pathogenic |
Coding sequence variant, missense variant |
|
rs587783594 |
T>A |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs587783595 |
G>A,T |
Likely-pathogenic, pathogenic |
Coding sequence variant, missense variant |
|
rs587783596 |
A>C,G |
Likely-pathogenic |
Synonymous variant, coding sequence variant, missense variant |
|
rs587783597 |
T>C |
Pathogenic |
Coding sequence variant, missense variant |
|
rs587783598 |
C>G |
Likely-pathogenic, pathogenic |
Coding sequence variant, missense variant |
|
rs746903992 |
C>A,G,T |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs773598203 |
G>A,T |
Pathogenic, uncertain-significance |
Missense variant, coding sequence variant |
|
rs864309705 |
G>A |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs879254086 |
G>A |
Pathogenic |
Missense variant, coding sequence variant |
|
rs886039704 |
C>G |
Pathogenic |
Missense variant, coding sequence variant |
|
rs1064793101 |
C>T |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs1555715869 |
C>A |
Likely-pathogenic |
Coding sequence variant, missense variant |