| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
| rs147714487 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Downstream transcript variant, stop gained, non coding transcript variant, genic downstream transcript variant, coding sequence variant |
| rs199473673 |
G>A |
Pathogenic |
Intron variant, missense variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant |
| rs199473674 |
TTCT>- |
Pathogenic |
Intron variant, frameshift variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant |
| rs199473675 |
G>- |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
| rs199473676 |
A>C |
Pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
| rs199473677 |
G>-,GG |
Pathogenic |
Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant |
| rs199473678 |
T>C |
Likely-pathogenic |
Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant |
| rs199473679 |
CAA>- |
Likely-pathogenic, pathogenic |
Intron variant, inframe deletion, non coding transcript variant, genic downstream transcript variant, coding sequence variant |
| rs199473682 |
G>A,C |
Pathogenic |
Missense variant, downstream transcript variant, stop gained, non coding transcript variant, genic downstream transcript variant, coding sequence variant |
| rs200609323 |
C>A |
Likely-pathogenic |
Genic downstream transcript variant, splice donor variant |
| rs201455840 |
A>G,T |
Pathogenic |
Downstream transcript variant, genic downstream transcript variant, coding sequence variant, missense variant, non coding transcript variant |
| rs202138550 |
G>A |
Pathogenic |
Intron variant, genic downstream transcript variant, coding sequence variant, missense variant, non coding transcript variant |
| rs369255297 |
C>T |
Pathogenic |
Intron variant, genic downstream transcript variant, coding sequence variant, missense variant, non coding transcript variant |
| rs369904656 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Intron variant |
| rs373905859 |
G>A |
Pathogenic |
Intron variant, genic downstream transcript variant, coding sequence variant, missense variant, non coding transcript variant |
| rs387907080 |
C>T |
Likely-pathogenic, pathogenic |
Non coding transcript variant, missense variant, coding sequence variant, 5 prime UTR variant |
| rs397514660 |
G>A |
Pathogenic |
Non coding transcript variant, stop gained, coding sequence variant, 5 prime UTR variant |
| rs745467709 |
->GCTG |
Pathogenic |
Coding sequence variant, frameshift variant, 5 prime UTR variant, non coding transcript variant |
| rs747887601 |
T>C |
Likely-pathogenic, uncertain-significance |
Coding sequence variant, missense variant, non coding transcript variant |
| rs761922947 |
AG>- |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, frameshift variant, non coding transcript variant |
| rs764019241 |
G>A |
Pathogenic |
Coding sequence variant, stop gained, intron variant, non coding transcript variant |
| rs767991627 |
G>A |
Pathogenic |
5 prime UTR variant, non coding transcript variant, stop gained, coding sequence variant |
| rs1196342305 |
A>- |
Pathogenic |
Coding sequence variant, intron variant, frameshift variant, non coding transcript variant |
| rs1444923772 |
C>- |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
| rs1555533840 |
->GGGCAGA |
Likely-pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
| rs1567599296 |
G>A |
Pathogenic |
Stop gained, non coding transcript variant, genic downstream transcript variant, coding sequence variant |
| rs1567599993 |
->G |
Likely-pathogenic |
Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant |
| rs1567609103 |
C>- |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
| rs1597374251 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant |
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