| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs138924661 |
G>A |
Likely-pathogenic, pathogenic, risk-factor |
Coding sequence variant, non coding transcript variant, stop gained |
|
rs147972030 |
A>-,AA |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs312262695 |
G>A,C,T |
Risk-factor, likely-pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
|
rs312262696 |
G>A |
Likely-pathogenic, pathogenic |
Splice acceptor variant |
|
rs312262697 |
C>T |
Likely-pathogenic |
Non coding transcript variant, stop gained, coding sequence variant |
|
rs312262698 |
->T |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
|
rs312262699 |
->A |
Risk-factor, likely-pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
|
rs762576212 |
C>T |
Pathogenic |
Coding sequence variant, stop gained, non coding transcript variant |
|
rs879255231 |
A>G |
Pathogenic |
Splice acceptor variant |
|
rs1060499708 |
G>A |
Pathogenic |
Stop gained, genic downstream transcript variant, coding sequence variant, 3 prime UTR variant, downstream transcript variant, non coding transcript variant |
|
rs1060499709 |
G>A |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs1064797074 |
TGTT>- |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
|
rs1555599211 |
A>G,T |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, missense variant |
|
rs1567825026 |
->G |
Likely-pathogenic |
Coding sequence variant, frameshift variant, genic downstream transcript variant, downstream transcript variant, non coding transcript variant |
|
rs1598043201 |
A>T |
Pathogenic |
Splice acceptor variant |
|