| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs41291058 |
C>T |
Benign, conflicting-interpretations-of-pathogenicity, likely-benign |
Coding sequence variant, intron variant, missense variant, non coding transcript variant |
|
rs114583297 |
C>T |
Conflicting-interpretations-of-pathogenicity, benign |
Non coding transcript variant, missense variant, intron variant, coding sequence variant |
|
rs121908324 |
G>A,C,T |
Pathogenic |
Missense variant, stop gained, coding sequence variant, upstream transcript variant, genic upstream transcript variant, non coding transcript variant |
|
rs121908325 |
C>T |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
|
rs121908326 |
C>A,G |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Non coding transcript variant, missense variant, intron variant, coding sequence variant |
|
rs139877665 |
G>A |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Non coding transcript variant, missense variant, coding sequence variant |
|
rs140170877 |
C>G,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, synonymous variant, non coding transcript variant |
|
rs750383461 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
|
rs753151497 |
C>T |
Pathogenic |
Coding sequence variant, missense variant, non coding transcript variant, 3 prime UTR variant, intron variant |
|
rs755104973 |
G>C |
Pathogenic |
Splice acceptor variant |
|
rs763778803 |
AC>- |
Likely-pathogenic |
Non coding transcript variant, frameshift variant, 5 prime UTR variant, coding sequence variant |
|
rs777648532 |
C>A,T |
Pathogenic |
Coding sequence variant, synonymous variant, stop gained, non coding transcript variant |
|
rs781585299 |
->C,CC |
Pathogenic |
Coding sequence variant, intron variant, frameshift variant, non coding transcript variant |
|
rs1201229554 |
G>- |
Pathogenic, likely-pathogenic |
Upstream transcript variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant, frameshift variant |
|
rs1461905374 |
T>G |
Pathogenic |
Splice donor variant |
|
rs1553170279 |
->G |
Pathogenic |
Upstream transcript variant, non coding transcript variant, genic upstream transcript variant, frameshift variant, coding sequence variant |
|
rs1557703339 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs1572052376 |
A>- |
Likely-pathogenic |
Coding sequence variant, intron variant, non coding transcript variant, frameshift variant |
|