| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs121434615 |
G>A |
Pathogenic |
Coding sequence variant, missense variant |
|
rs121434616 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs754330779 |
GGAGGAGGA>-,GGA,GGAGGA,GGAGGAGGAGGA,GGAGGAGGAGGAGGA |
Likely-pathogenic, likely-benign |
Genic upstream transcript variant, inframe deletion, coding sequence variant, inframe insertion, upstream transcript variant |
|
rs766506778 |
C>T |
Likely-pathogenic |
Splice acceptor variant |
|
rs786200913 |
T>C |
Pathogenic |
Splice acceptor variant |
|
rs797044862 |
C>A,T |
Likely-pathogenic, pathogenic |
Splice donor variant |
|
rs869320682 |
G>A |
Pathogenic |
Missense variant, upstream transcript variant, coding sequence variant, genic upstream transcript variant |
|
rs878853152 |
TG>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs886039718 |
AA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs905353542 |
G>A,T |
Likely-pathogenic |
Synonymous variant, coding sequence variant, stop gained |
|
rs1057518039 |
T>C |
Likely-pathogenic |
Missense variant, genic upstream transcript variant, coding sequence variant, upstream transcript variant |
|
rs1057518598 |
AG>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs1057519396 |
GT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1064794800 |
C>A |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1085307760 |
AATAT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1260356990 |
G>A,C |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs1556173896 |
C>T |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1556200443 |
C>- |
Likely-pathogenic |
Coding sequence variant, splice donor variant |
|
rs1556206910 |
TC>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1556213001 |
C>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1556216330 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1556220623 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1569385075 |
G>A |
Likely-pathogenic |
Coding sequence variant, stop gained |
|
rs1569389364 |
TTAC>- |
Likely-pathogenic |
Splice donor variant, intron variant |
|
rs1569390220 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1569390976 |
A>G |
Conflicting-interpretations-of-pathogenicity |
Intron variant |
|
rs1602567594 |
AAGT>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs1602573558 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1602577238 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |