| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs11575925 |
G>C |
Conflicting-interpretations-of-pathogenicity |
Missense variant, upstream transcript variant, coding sequence variant, genic upstream transcript variant |
|
rs121434492 |
G>A |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, stop gained |
|
rs121434493 |
G>A |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, stop gained |
|
rs121434494 |
G>A |
Pathogenic |
Coding sequence variant, missense variant |
|
rs121434495 |
A>G |
Pathogenic |
5 prime UTR variant, coding sequence variant, missense variant |
|
rs147766868 |
G>A,C,T |
Uncertain-significance, pathogenic |
Missense variant, stop gained, coding sequence variant |
|
rs554063682 |
A>C |
Pathogenic |
Splice donor variant, genic downstream transcript variant |
|
rs564884307 |
C>A,T |
Uncertain-significance, pathogenic |
5 prime UTR variant, stop gained, missense variant, coding sequence variant |
|
rs587776680 |
C>G,T |
Pathogenic |
Splice donor variant |
|
rs756272570 |
C>G,T |
Likely-pathogenic |
Coding sequence variant, intron variant, missense variant |
|
rs1057524791 |
A>T |
Likely-pathogenic |
Coding sequence variant, 5 prime UTR variant, missense variant |
|
rs1202592147 |
G>A,C |
Pathogenic |
Synonymous variant, genic upstream transcript variant, upstream transcript variant, stop gained, coding sequence variant |
|
rs1476855887 |
C>- |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, frameshift variant |
|
rs1555782866 |
T>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1568515222 |
CCCG>- |
Pathogenic |
Genic upstream transcript variant, coding sequence variant, frameshift variant, upstream transcript variant |
|
rs1599555124 |
T>- |
Pathogenic |
Genic upstream transcript variant, coding sequence variant, frameshift variant, upstream transcript variant |
|