| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs199469623 |
G>A,T |
Pathogenic |
Genic upstream transcript variant, missense variant, coding sequence variant |
|
rs199469624 |
T>A,C |
Pathogenic |
Genic upstream transcript variant, missense variant, coding sequence variant |
|
rs199469625 |
T>G |
Pathogenic |
Missense variant, coding sequence variant |
|
rs199469626 |
C>A |
Pathogenic |
Missense variant, coding sequence variant |
|
rs199469627 |
T>C |
Pathogenic |
Missense variant, coding sequence variant |
|
rs199469628 |
G>A |
Pathogenic |
Missense variant, coding sequence variant |
|
rs199469629 |
C>T |
Pathogenic |
Missense variant, coding sequence variant |
|
rs199469630 |
A>G |
Pathogenic |
Missense variant, coding sequence variant |
|
rs199469631 |
C>T |
Pathogenic |
Missense variant, coding sequence variant |
|
rs199469632 |
C>T |
Pathogenic |
Missense variant, coding sequence variant |
|
rs199469633 |
C>T |
Pathogenic |
Missense variant, coding sequence variant |
|
rs199469634 |
G>T |
Pathogenic |
Missense variant, coding sequence variant |
|
rs199469635 |
G>A |
Pathogenic |
Missense variant, coding sequence variant |
|
rs199469636 |
C>T |
Pathogenic |
Missense variant, coding sequence variant |
|
rs199469637 |
G>A,T |
Pathogenic |
Missense variant, coding sequence variant, stop gained |
|
rs199469638 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs199469639 |
A>C |
Pathogenic |
Missense variant, coding sequence variant |
|
rs199469640 |
C>A |
Pathogenic |
Missense variant, coding sequence variant |
|
rs199469641 |
G>A |
Pathogenic |
Missense variant, coding sequence variant |
|
rs199469642 |
A>G |
Pathogenic |
Missense variant, coding sequence variant |
|
rs199469643 |
C>T |
Pathogenic |
Missense variant, coding sequence variant |
|
rs199469644 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs199469645 |
T>C |
Pathogenic |
Missense variant, coding sequence variant |
|
rs199469646 |
G>A |
Pathogenic |
Missense variant, coding sequence variant |
|
rs199469647 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs199469648 |
C>T |
Pathogenic |
Splice donor variant |
|
rs387907155 |
G>A |
Pathogenic |
Coding sequence variant, missense variant |
|
rs387907156 |
G>A |
Pathogenic |
Coding sequence variant, missense variant |
|
rs562736621 |
G>A,T |
Pathogenic |
Synonymous variant, missense variant, coding sequence variant |
|
rs863225302 |
C>G,T |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs1561586322 |
C>T |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs1561616000 |
G>A |
Likely-pathogenic |
Coding sequence variant, stop gained, genic upstream transcript variant |