| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs118204020 |
G>A |
Pathogenic |
Missense variant, coding sequence variant, genic downstream transcript variant |
|
rs118204021 |
C>T |
Pathogenic |
Missense variant, coding sequence variant, genic upstream transcript variant, 5 prime UTR variant |
|
rs150299874 |
C>T |
Pathogenic |
Splice donor variant, genic upstream transcript variant |
|
rs267607206 |
T>A,C |
Pathogenic, likely-pathogenic |
Coding sequence variant, missense variant, genic upstream transcript variant, 5 prime UTR variant |
|
rs387907013 |
G>A |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, stop gained |
|
rs766538932 |
G>- |
Pathogenic |
Frameshift variant, 5 prime UTR variant, coding sequence variant |
|
rs786200869 |
A>- |
Pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant |
|
rs786200870 |
C>A |
Pathogenic |
Splice donor variant, genic downstream transcript variant |
|
rs797045678 |
T>- |
Pathogenic |
Coding sequence variant, 5 prime UTR variant, frameshift variant |
|
rs887386390 |
T>C |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs937345512 |
G>A |
Pathogenic |
5 prime UTR variant, stop gained, genic upstream transcript variant, coding sequence variant |
|
rs1555328499 |
A>C |
Likely-pathogenic |
Splice donor variant, genic downstream transcript variant |
|
rs1555328749 |
T>- |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, frameshift variant |
|
rs1555330643 |
T>A |
Likely-pathogenic |
Coding sequence variant, missense variant |