| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs80338905 |
C>A,T |
Pathogenic |
Coding sequence variant, non coding transcript variant, synonymous variant, stop gained |
|
rs80338906 |
T>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs80338907 |
C>A,T |
Pathogenic |
Coding sequence variant, non coding transcript variant, synonymous variant, stop gained |
|
rs116306908 |
A>G |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs139671268 |
G>A |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs140526335 |
A>G |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs141850403 |
C>T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Synonymous variant, non coding transcript variant, coding sequence variant |
|
rs397514750 |
G>T |
Pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
|
rs398122380 |
TACAAGT>- |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs745973997 |
G>A |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
|
rs755328835 |
A>G |
Likely-pathogenic |
Splice acceptor variant |
|
rs770269674 |
G>A |
Pathogenic |
Splice acceptor variant |
|
rs1554621211 |
GAGTG>- |
Pathogenic |
Inframe indel, non coding transcript variant, coding sequence variant, stop gained |
|
rs1563764078 |
T>C |
Likely-pathogenic |
Splice donor variant |
|