| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs606231266 |
CAG>- |
Pathogenic |
Coding sequence variant, inframe deletion, non coding transcript variant, genic downstream transcript variant |
|
rs606231267 |
->T |
Pathogenic |
Coding sequence variant, intron variant, frameshift variant, non coding transcript variant |
|
rs672601341 |
G>- |
Pathogenic |
Coding sequence variant, intron variant, frameshift variant, non coding transcript variant |
|
rs797044854 |
C>A,T |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, non coding transcript variant, synonymous variant, missense variant |
|
rs1057518219 |
AACA>- |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant |
|
rs1060499626 |
C>T |
Pathogenic |
Stop gained, non coding transcript variant, 5 prime UTR variant, intron variant, coding sequence variant |
|
rs1135401771 |
C>- |
Pathogenic |
Frameshift variant, non coding transcript variant, intron variant, coding sequence variant |
|
rs1135401797 |
C>T |
Pathogenic |
Non coding transcript variant, 5 prime UTR variant, intron variant, coding sequence variant, missense variant |
|
rs1554767737 |
C>T |
Pathogenic |
Intron variant, non coding transcript variant, 5 prime UTR variant, stop gained, coding sequence variant |
|
rs1554767754 |
C>T |
Pathogenic |
Intron variant, non coding transcript variant, 5 prime UTR variant, stop gained, coding sequence variant |
|
rs1554789246 |
AA>- |
Pathogenic |
Intron variant, coding sequence variant, frameshift variant |
|