| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs199599204 |
G>A,C,T |
Conflicting-interpretations-of-pathogenicity, benign-likely-benign, benign |
Coding sequence variant, missense variant, non coding transcript variant, synonymous variant |
|
rs200286768 |
G>A,T |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, synonymous variant, stop gained |
|
rs201431517 |
G>A |
Pathogenic-likely-pathogenic, pathogenic |
Coding sequence variant, missense variant, intron variant |
|
rs372732702 |
C>A,T |
Likely-pathogenic |
Coding sequence variant, missense variant, non coding transcript variant, synonymous variant |
|
rs397514613 |
G>A |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
|
rs397514614 |
G>A |
Pathogenic |
Coding sequence variant, missense variant, non coding transcript variant |
|
rs587777244 |
G>A,T |
Pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
|
rs587777417 |
AGCACCCG>- |
Pathogenic, likely-pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs587777418 |
C>T |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, missense variant |
|
rs587777419 |
G>A |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
|
rs751294162 |
T>C |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
|
rs754222633 |
AA>- |
Pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant |
|
rs777725264 |
CTTT>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
|
rs863224897 |
A>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant |
|
rs1064793194 |
A>C |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
|
rs1555404423 |
G>A |
Pathogenic |
Stop gained, coding sequence variant, non coding transcript variant |
|