| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs141414055 |
G>A,C |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant, missense variant |
|
rs192669216 |
G>A,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, coding sequence variant |
|
rs371707778 |
G>A |
Pathogenic, likely-pathogenic |
Missense variant, coding sequence variant |
|
rs398123028 |
G>A |
Pathogenic, not-provided |
Missense variant, coding sequence variant |
|
rs398123029 |
T>G |
Pathogenic |
Missense variant, coding sequence variant |
|
rs398123030 |
T>C |
Pathogenic |
Missense variant, coding sequence variant |
|
rs398123031 |
T>G |
Pathogenic |
Missense variant, coding sequence variant |
|
rs398123032 |
C>G,T |
Pathogenic |
Missense variant, coding sequence variant |
|
rs779170531 |
C>G,T |
Conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant |
|
rs797044920 |
A>G |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs797045412 |
G>A,T |
Likely-pathogenic, pathogenic |
Coding sequence variant, missense variant |
|
rs1064793875 |
G>A |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs1064795760 |
ATT>- |
Likely-pathogenic, pathogenic |
Inframe deletion, coding sequence variant |
|
rs1064795764 |
G>A |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs1131691347 |
C>T |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs1263279945 |
C>A,G,T |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs1445290655 |
G>A |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs1564061982 |
T>C |
Pathogenic |
Coding sequence variant, missense variant |
|
rs1587667544 |
G>A |
Uncertain-significance, likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1587668769 |
T>C |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1587668798 |
G>A |
Pathogenic |
Missense variant, coding sequence variant |
|
rs1587671674 |
T>A |
Pathogenic |
Missense variant, coding sequence variant |