| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs34928857 |
C>G |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant, non coding transcript variant |
|
rs143712760 |
C>A |
Uncertain-significance, likely-pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
|
rs146571352 |
C>T |
Likely-pathogenic, not-provided, uncertain-significance |
Missense variant, coding sequence variant, non coding transcript variant |
|
rs151166046 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Non coding transcript variant, missense variant, coding sequence variant |
|
rs200088200 |
G>C |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs374698153 |
G>C |
Likely-pathogenic, uncertain-significance |
Non coding transcript variant, coding sequence variant, missense variant |
|
rs397514598 |
T>C |
Pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
|
rs397514599 |
T>C |
Pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
|
rs746356243 |
C>G,T |
Pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
|
rs752550279 |
C>A,G |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, missense variant |
|
rs767310806 |
T>C,G |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
|
rs772153760 |
C>T |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
|
rs774425075 |
C>T |
Likely-pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
|
rs778100619 |
G>A,C,T |
Pathogenic |
Missense variant, non coding transcript variant, coding sequence variant, stop gained |
|
rs863225449 |
C>T |
Pathogenic |
Splice acceptor variant |
|
rs879255657 |
C>G |
Pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs1064793593 |
GT>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs1365308037 |
C>A,T |
Likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
|
rs1553493871 |
A>- |
Likely-pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1559094461 |
C>G |
Pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
|
rs1559114055 |
A>G |
Pathogenic |
Coding sequence variant, intron variant, 5 prime UTR variant, non coding transcript variant, missense variant |
|
rs1572834021 |
C>- |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|