SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs80338694 |
G>A,C |
Likely-pathogenic, pathogenic |
Coding sequence variant, upstream transcript variant, missense variant, genic upstream transcript variant, non coding transcript variant, synonymous variant |
rs80338696 |
G>A |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
rs80338697 |
G>A,C,T |
Pathogenic |
Coding sequence variant, missense variant, non coding transcript variant, genic downstream transcript variant, synonymous variant |
rs80338699 |
G>A |
Pathogenic |
Non coding transcript variant, coding sequence variant, missense variant, genic downstream transcript variant |
rs113313967 |
C>T |
Pathogenic |
Intron variant |
rs120074166 |
T>C |
Pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
rs120074167 |
G>A |
Likely-pathogenic, pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
rs120074168 |
A>T |
Pathogenic |
Non coding transcript variant, coding sequence variant, missense variant, genic downstream transcript variant |
rs120074169 |
AAC>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, inframe deletion |
rs138334226 |
G>A,C |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
rs140334403 |
G>A,T |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
rs769679860 |
->A |
Pathogenic |
Genic downstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant |
rs1223300626 |
->AA |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
rs1336651679 |
A>T |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
rs1555414654 |
->GGC |
Likely-pathogenic |
Splice donor variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant |
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