| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs769522583 |
A>G |
Likely-pathogenic |
Genic upstream transcript variant, missense variant, coding sequence variant |
|
rs886039429 |
C>T |
Pathogenic |
Missense variant, coding sequence variant, genic upstream transcript variant |
|
rs1057518992 |
G>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs1060505054 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1064794841 |
C>T |
Likely-pathogenic, pathogenic |
Stop gained, coding sequence variant, genic upstream transcript variant |
|
rs1064796492 |
G>C |
Likely-pathogenic |
Missense variant, coding sequence variant, genic upstream transcript variant |
|
rs1553148514 |
T>C |
Likely-pathogenic |
Intron variant, initiator codon variant, genic upstream transcript variant, coding sequence variant, missense variant |
|
rs1553149182 |
C>T |
Not-provided, pathogenic |
Coding sequence variant, genic upstream transcript variant, stop gained |
|
rs1553149185 |
C>T |
Likely-pathogenic |
Coding sequence variant, genic upstream transcript variant, stop gained |
|
rs1553149202 |
->A |
Likely-pathogenic |
Frameshift variant, coding sequence variant, genic upstream transcript variant |
|
rs1553149206 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant, genic upstream transcript variant |
|
rs1553167851 |
C>T |
Pathogenic |
Coding sequence variant, 5 prime UTR variant, stop gained |
|
rs1553180342 |
->TT |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1553182933 |
G>A |
Pathogenic |
Splice acceptor variant |
|
rs1553182964 |
ACTT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1557762822 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1570122721 |
AGAG>- |
Likely-pathogenic |
Genic upstream transcript variant, frameshift variant, coding sequence variant |
|
rs1570123287 |
G>C |
Likely-pathogenic |
Genic upstream transcript variant, coding sequence variant, missense variant |
|
rs1570497904 |
->CCTC |
Likely-pathogenic |
Frameshift variant, 5 prime UTR variant, coding sequence variant |