| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs370273690 |
T>C,G |
Pathogenic |
Missense variant, coding sequence variant, synonymous variant |
|
rs387907232 |
C>T |
Pathogenic |
Coding sequence variant, missense variant |
|
rs387907233 |
T>C |
Pathogenic |
Coding sequence variant, missense variant |
|
rs387907234 |
G>C |
Pathogenic |
Coding sequence variant, missense variant |
|
rs786205344 |
G>- |
Pathogenic |
Genic upstream transcript variant, splice acceptor variant |
|
rs786205345 |
TCAC>- |
Pathogenic |
Coding sequence variant, frameshift variant, 5 prime UTR variant |
|
rs864309519 |
->G |
Pathogenic |
Coding sequence variant, frameshift variant, 5 prime UTR variant |
|
rs886039786 |
T>C |
Pathogenic |
Coding sequence variant, missense variant, 5 prime UTR variant, genic upstream transcript variant |
|
rs886039787 |
A>C |
Pathogenic |
Coding sequence variant, missense variant, 5 prime UTR variant |
|
rs886039788 |
G>A |
Pathogenic |
Coding sequence variant, missense variant, 5 prime UTR variant, genic upstream transcript variant |
|
rs886039789 |
C>G,T |
Pathogenic |
Genic upstream transcript variant, stop gained, missense variant, coding sequence variant, 5 prime UTR variant |
|
rs886039790 |
C>T |
Pathogenic |
Intron variant, genic upstream transcript variant, stop gained, coding sequence variant, upstream transcript variant, 5 prime UTR variant |
|
rs1579966821 |
->T |
Likely-pathogenic |
Genic upstream transcript variant, frameshift variant, coding sequence variant, 5 prime UTR variant |
|