| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs150512167 |
A>C,G |
Pathogenic |
Missense variant, non coding transcript variant, synonymous variant, coding sequence variant, genic upstream transcript variant |
|
rs1553354926 |
C>A |
Pathogenic |
Stop gained, coding sequence variant, genic downstream transcript variant, non coding transcript variant |
|
rs1553354952 |
C>T |
Likely-pathogenic |
Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant |
|
rs1553354956 |
A>C |
Likely-pathogenic |
Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant |
|
rs1553354980 |
AT>- |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, frameshift variant, non coding transcript variant |
|
rs1553358993 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs1553359034 |
GT>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs1553359384 |
C>T |
Pathogenic |
Coding sequence variant, missense variant, non coding transcript variant |
|
rs1572168244 |
C>A |
Likely-pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant, non coding transcript variant |
|
rs1572186477 |
GC>AA |
Pathogenic |
Coding sequence variant, stop gained, non coding transcript variant |
|