| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs879255622 |
G>A |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
|
rs879255623 |
A>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs879255624 |
A>T |
Pathogenic |
Coding sequence variant, non coding transcript variant, genic upstream transcript variant, stop gained |
|
rs879255625 |
A>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs879255626 |
G>A |
Pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs879255627 |
C>A |
Pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs879255628 |
A>T |
Pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs905287265 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Missense variant, upstream transcript variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant |
|
rs1057516029 |
G>T |
Pathogenic |
Stop gained, coding sequence variant, genic upstream transcript variant, non coding transcript variant |
|
rs1435239428 |
C>A,T |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, missense variant, stop gained |
|
rs1436796227 |
->C,CC |
Likely-pathogenic |
Coding sequence variant, intron variant, genic downstream transcript variant, frameshift variant |
|
rs1554054155 |
C>T |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
|
rs1554062562 |
C>T |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
|
rs1554062588 |
C>T |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
|
rs1554064737 |
G>A |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
|
rs1554064863 |
G>A |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
|
rs1554065893 |
C>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs1554068529 |
->A |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs1554070777 |
A>G |
Pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs1554086647 |
A>T |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, stop gained, genic downstream transcript variant |
|
rs1554091578 |
AT>- |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1561518112 |
G>A |
Pathogenic |
Downstream transcript variant, stop gained, coding sequence variant, genic downstream transcript variant, non coding transcript variant |
|
rs1579448914 |
GT>- |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1579522661 |
G>T |
Likely-pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
|
rs1579564431 |
A>G |
Likely-pathogenic |
Splice acceptor variant |
|
rs1579803563 |
GC>CGAGGGG |
Likely-pathogenic |
Intron variant, genic downstream transcript variant, frameshift variant, coding sequence variant |
|
rs1579804792 |
->CCGGG |
Likely-pathogenic |
Intron variant, genic downstream transcript variant, frameshift variant, coding sequence variant |
|