| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs201294090 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant, non coding transcript variant |
|
rs727502863 |
A>C |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
|
rs727502864 |
->G |
Pathogenic-likely-pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs747109506 |
G>-,GG,GGG |
Conflicting-interpretations-of-pathogenicity |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs754099015 |
G>A |
Pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
|
rs755655527 |
C>A,T |
Likely-pathogenic |
Stop gained, non coding transcript variant, coding sequence variant, missense variant |
|
rs767086146 |
TC>- |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
|
rs797044992 |
G>A |
Pathogenic |
Stop gained, coding sequence variant, non coding transcript variant |
|
rs797044993 |
A>T |
Pathogenic, likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
|
rs797044994 |
G>A |
Pathogenic |
Stop gained, coding sequence variant, non coding transcript variant |
|
rs797044995 |
C>G,T |
Pathogenic, likely-pathogenic |
Intron variant, missense variant, coding sequence variant, non coding transcript variant |
|
rs863223396 |
A>G |
Uncertain-significance, likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
|
rs866551482 |
C>T |
Likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
|
rs869320712 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
|
rs1282630153 |
->G |
Likely-pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs1567021756 |
A>C,T |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, missense variant, stop gained |
|
rs1596048227 |
C>T |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
|
rs1596050243 |
AA>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
|
rs1596050297 |
->GCCCAGGGCCCTGG |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
|
rs1596050386 |
A>T |
Pathogenic |
Non coding transcript variant, coding sequence variant, stop gained |
|
rs1596050605 |
GT>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
|
rs1596057578 |
C>G |
Pathogenic |
Splice acceptor variant, non coding transcript variant |