| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs199422232 |
G>T |
Pathogenic |
Upstream transcript variant, genic upstream transcript variant, intron variant, non coding transcript variant, coding sequence variant, stop gained |
|
rs199422233 |
G>A |
Pathogenic |
Upstream transcript variant, genic upstream transcript variant, intron variant, non coding transcript variant, coding sequence variant, stop gained |
|
rs201119959 |
T>A,C |
Uncertain-significance, pathogenic |
Upstream transcript variant, genic upstream transcript variant, intron variant, coding sequence variant, missense variant |
|
rs387906726 |
G>A,T |
Likely-benign, pathogenic |
Non coding transcript variant, synonymous variant, stop gained, coding sequence variant |
|
rs587776723 |
A>- |
Pathogenic |
Splice donor variant |
|
rs587776724 |
->T |
Pathogenic |
Upstream transcript variant, genic upstream transcript variant, intron variant, frameshift variant, coding sequence variant |
|
rs587776725 |
G>- |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs587776726 |
->AC |
Pathogenic |
Non coding transcript variant, upstream transcript variant, genic upstream transcript variant, intron variant, frameshift variant, coding sequence variant |
|
rs587776727 |
G>- |
Pathogenic |
Upstream transcript variant, genic upstream transcript variant, intron variant, frameshift variant, coding sequence variant |
|
rs587776728 |
GA>- |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs587777396 |
G>A |
Likely-pathogenic, pathogenic |
Missense variant, upstream transcript variant, genic upstream transcript variant, intron variant, coding sequence variant |
|
rs587777397 |
->A |
Pathogenic |
Non coding transcript variant, upstream transcript variant, genic upstream transcript variant, intron variant, frameshift variant, coding sequence variant |
|
rs587777398 |
C>A,T |
Likely-pathogenic, pathogenic |
Missense variant, non coding transcript variant, upstream transcript variant, genic upstream transcript variant, intron variant, coding sequence variant |
|
rs587777399 |
AAG>- |
Pathogenic |
Non coding transcript variant, inframe deletion, coding sequence variant |
|
rs587777400 |
G>A |
Pathogenic |
Missense variant, non coding transcript variant, upstream transcript variant, genic upstream transcript variant, intron variant, coding sequence variant |
|
rs786200912 |
->TTTCAATGATAGAATCTGGAGTCATCCATCTCAA |
Pathogenic |
Stop gained, inframe indel, non coding transcript variant, coding sequence variant |
|
rs797044924 |
T>C |
Likely-pathogenic |
Genic upstream transcript variant, non coding transcript variant, intron variant, missense variant, upstream transcript variant, coding sequence variant |
|
rs879255543 |
->C |
Pathogenic |
Genic upstream transcript variant, non coding transcript variant, intron variant, upstream transcript variant, frameshift variant, coding sequence variant |
|
rs1057523554 |
T>C |
Likely-pathogenic |
Upstream transcript variant, missense variant, genic upstream transcript variant, coding sequence variant, intron variant, non coding transcript variant |
|
rs1060499625 |
G>C |
Likely-pathogenic |
Upstream transcript variant, missense variant, genic upstream transcript variant, coding sequence variant, intron variant |
|
rs1060499666 |
C>T |
Likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
|
rs1555945480 |
G>A |
Likely-pathogenic |
Intron variant, genic upstream transcript variant, missense variant, coding sequence variant, upstream transcript variant |
|
rs1555945553 |
C>T |
Likely-pathogenic |
Intron variant, non coding transcript variant, genic upstream transcript variant, missense variant, coding sequence variant, upstream transcript variant |
|
rs1602206514 |
->TCCAGGCA |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs1602208229 |
A>- |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs1602212285 |
G>A |
Likely-pathogenic |
Coding sequence variant, upstream transcript variant, intron variant, genic upstream transcript variant, non coding transcript variant, missense variant |
|