| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs753044214 |
A>-,AA |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs782736894 |
T>C,G |
Likely-pathogenic, pathogenic |
Missense variant, genic downstream transcript variant, coding sequence variant |
|
rs1135401778 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant |
|
rs1158151918 |
C>A,T |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, synonymous variant, stop gained |
|
rs1425998598 |
G>A,C |
Likely-pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
|
rs1555639076 |
A>- |
Likely-pathogenic, pathogenic |
Frameshift variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant |
|
rs1555639411 |
->G |
Pathogenic |
Frameshift variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant |
|
rs1555649483 |
GAAGGACCAAGG>- |
Pathogenic |
Splice donor variant, non coding transcript variant, coding sequence variant |
|
rs1555652383 |
TG>- |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
|
rs1555652826 |
C>- |
Likely-pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
|
rs1555693714 |
A>T |
Pathogenic |
Stop gained, genic downstream transcript variant, coding sequence variant |
|
rs1568070621 |
AG>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
|
rs1598050118 |
C>-,CC |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant |
|
rs1598468564 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant |
|
rs1598599641 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
|
rs1598681680 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
|
rs1599044870 |
->T |
Likely-pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant |
|