| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs863224853 |
A>G |
Likely-pathogenic |
Coding sequence variant, genic downstream transcript variant, missense variant |
|
rs886041635 |
C>T |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, stop gained |
|
rs886041999 |
A>- |
Pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant, genic upstream transcript variant |
|
rs886043243 |
C>T |
Likely-pathogenic |
Genic downstream transcript variant, coding sequence variant, stop gained |
|
rs1057523792 |
C>T |
Likely-pathogenic |
Genic downstream transcript variant, stop gained, coding sequence variant |
|
rs1057524775 |
G>T |
Likely-pathogenic |
Genic downstream transcript variant, stop gained, coding sequence variant, genic upstream transcript variant |
|
rs1064795180 |
->CG |
Pathogenic |
Genic downstream transcript variant, frameshift variant, coding sequence variant, genic upstream transcript variant |
|
rs1064796146 |
A>- |
Likely-pathogenic |
Genic downstream transcript variant, frameshift variant, coding sequence variant, genic upstream transcript variant |
|
rs1085307743 |
G>- |
Pathogenic |
Genic downstream transcript variant, stop gained, coding sequence variant, genic upstream transcript variant |
|
rs1135401818 |
C>T |
Likely-pathogenic |
Missense variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant, genic downstream transcript variant |
|
rs1485778259 |
C>A,T |
Likely-pathogenic |
Genic downstream transcript variant, coding sequence variant, missense variant, stop gained |
|
rs1553231167 |
G>T |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, genic upstream transcript variant, stop gained |
|
rs1553238271 |
C>T |
Likely-pathogenic |
Genic downstream transcript variant, coding sequence variant, genic upstream transcript variant, stop gained |
|
rs1553238311 |
G>- |
Likely-pathogenic |
Genic downstream transcript variant, frameshift variant, coding sequence variant, genic upstream transcript variant |
|
rs1553239242 |
->G |
Pathogenic |
Genic downstream transcript variant, frameshift variant, coding sequence variant, genic upstream transcript variant |
|
rs1553240332 |
C>- |
Pathogenic |
Genic downstream transcript variant, frameshift variant, coding sequence variant, genic upstream transcript variant |
|
rs1553272873 |
G>A |
Likely-pathogenic |
Intron variant, genic downstream transcript variant, coding sequence variant, stop gained |
|
rs1553280067 |
C>T |
Likely-pathogenic |
Genic downstream transcript variant, coding sequence variant, stop gained |
|
rs1553288180 |
C>G |
Likely-pathogenic |
Genic downstream transcript variant, coding sequence variant, genic upstream transcript variant, stop gained |
|
rs1553288266 |
C>- |
Pathogenic |
Genic downstream transcript variant, frameshift variant, coding sequence variant, genic upstream transcript variant |
|
rs1576688799 |
A>G |
Likely-pathogenic |
Coding sequence variant, genic downstream transcript variant, genic upstream transcript variant, missense variant |
|
rs1576691273 |
G>A |
Pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant, genic upstream transcript variant |
|
rs1577313897 |
AG>- |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, frameshift variant |
|
rs1577362316 |
G>A |
Likely-pathogenic |
Splice acceptor variant, genic downstream transcript variant |
|
rs1577362553 |
A>- |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, frameshift variant |
|