| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs1059145 |
A>G |
Likely-pathogenic |
Coding sequence variant, intron variant, missense variant |
|
rs587777355 |
A>G |
Pathogenic |
Non coding transcript variant, missense variant, intron variant, coding sequence variant |
|
rs587777356 |
G>A |
Pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
|
rs587777357 |
G>A |
Pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
|
rs864321676 |
C>A |
Pathogenic |
Missense variant, coding sequence variant, intron variant, upstream transcript variant, genic upstream transcript variant, non coding transcript variant |
|
rs864321677 |
A>T |
Pathogenic |
Coding sequence variant, intron variant, missense variant |
|
rs878853162 |
C>T |
Pathogenic |
Coding sequence variant, intron variant, missense variant |
|
rs1057518412 |
G>A |
Likely-pathogenic |
Intron variant, coding sequence variant, missense variant |
|
rs1057520046 |
C>G |
Likely-pathogenic |
Intron variant, coding sequence variant, missense variant |
|
rs1057524718 |
C>G |
Likely-pathogenic |
Intron variant, coding sequence variant, missense variant |
|
rs1085307486 |
G>T |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
|
rs1554202416 |
C>T |
Likely-pathogenic, uncertain-significance |
Missense variant, coding sequence variant, intron variant |
|
rs1581668624 |
C>T |
Likely-pathogenic |
Missense variant, coding sequence variant, intron variant |
|