| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs61755907 |
G>A,T |
Pathogenic |
Coding sequence variant, stop gained, synonymous variant |
|
rs140209484 |
G>A,C |
Conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant, intron variant |
|
rs143850475 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant, intron variant |
|
rs144228973 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant, intron variant |
|
rs148050566 |
G>A,T |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, intron variant, missense variant |
|
rs149519060 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant |
|
rs186443822 |
C>A,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Intron variant |
|
rs267607046 |
G>A |
Pathogenic |
Missense variant, coding sequence variant |
|
rs367543284 |
C>T |
Pathogenic |
Splice donor variant |
|
rs369555721 |
G>C |
Conflicting-interpretations-of-pathogenicity |
Intron variant |
|
rs775217258 |
T>G |
Pathogenic |
Splice acceptor variant |
|
rs780292269 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant, intron variant |
|
rs794728005 |
->A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs794728006 |
C>- |
Pathogenic-likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs886042037 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |