| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs75426387 |
C>A,T |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, non coding transcript variant, coding sequence variant |
|
rs113337758 |
G>A |
Conflicting-interpretations-of-pathogenicity |
3 prime UTR variant, synonymous variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant |
|
rs121918609 |
G>A,C |
Pathogenic |
Genic downstream transcript variant, missense variant, stop gained, coding sequence variant, 3 prime UTR variant, non coding transcript variant |
|
rs139912214 |
C>G |
Likely-pathogenic, likely-benign, benign-likely-benign |
Non coding transcript variant, missense variant, coding sequence variant |
|
rs144746030 |
G>A |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, genic downstream transcript variant, 3 prime UTR variant, non coding transcript variant, missense variant |
|
rs148193936 |
T>C |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, non coding transcript variant, coding sequence variant, intron variant, genic downstream transcript variant |
|
rs149296029 |
T>C |
Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign |
Synonymous variant, coding sequence variant, non coding transcript variant |
|
rs188900275 |
A>G |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Intron variant |
|
rs199422206 |
C>T |
Pathogenic |
Genic downstream transcript variant, splice donor variant |
|
rs199422207 |
C>- |
Pathogenic |
3 prime UTR variant, coding sequence variant, non coding transcript variant, stop gained, genic downstream transcript variant |
|
rs200532713 |
A>G |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant, non coding transcript variant |
|
rs367887740 |
T>A,G |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Non coding transcript variant, coding sequence variant, synonymous variant |
|
rs369348360 |
C>G |
Likely-pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
|
rs398122976 |
A>C |
Pathogenic |
Coding sequence variant, missense variant, non coding transcript variant |
|
rs587784452 |
A>T |
Likely-pathogenic |
Coding sequence variant, missense variant, non coding transcript variant |
|
rs767408811 |
->T |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs863225464 |
C>A,T |
Pathogenic, likely-pathogenic |
Intron variant |
|
rs888258532 |
G>A,T |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
|
rs1064796510 |
T>C |
Pathogenic |
Genic downstream transcript variant, intron variant, splice acceptor variant |
|
rs1553180057 |
->A |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant, 5 prime UTR variant |
|
rs1570108068 |
GC>- |
Likely-pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |