| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs140854076 |
G>A,C,T |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant, missense variant |
|
rs200934080 |
C>G,T |
Pathogenic |
Missense variant, coding sequence variant, stop gained |
|
rs373260156 |
T>C,G |
Pathogenic |
Synonymous variant, missense variant, coding sequence variant |
|
rs387906724 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs782474570 |
TT>- |
Pathogenic |
Upstream transcript variant, genic upstream transcript variant, frameshift variant, coding sequence variant |
|
rs879989957 |
G>A,T |
Pathogenic |
Synonymous variant, stop gained, coding sequence variant |
|
rs1557213306 |
C>T |
Uncertain-significance, likely-pathogenic |
Splice donor variant |
|
rs1557217723 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1569547876 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1569547878 |
A>C |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1569548146 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1603359848 |
CTCCACCATCTAA>- |
Likely-pathogenic |
Coding sequence variant, splice acceptor variant, intron variant |
|
rs1603361427 |
GGATACTAAA>- |
Pathogenic |
Coding sequence variant, splice donor variant, intron variant |
|
rs1603361428 |
->AA |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs1603361606 |
AAACA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1603361729 |
->TC |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1603361795 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1603361804 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1603361811 |
C>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |