| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
| rs149170494 |
G>C |
Pathogenic |
Coding sequence variant, 5 prime UTR variant, non coding transcript variant, missense variant |
| rs201824659 |
G>T |
Pathogenic |
Splice acceptor variant |
| rs751670999 |
T>C |
Pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
| rs762515973 |
A>G |
Pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs886039897 |
G>A |
Pathogenic |
Splice acceptor variant, intron variant |
| rs1014959895 |
G>C,T |
Pathogenic, likely-pathogenic |
Coding sequence variant, missense variant, stop gained, intron variant, non coding transcript variant |
| rs1251713297 |
C>A |
Pathogenic |
Non coding transcript variant, downstream transcript variant, stop gained, coding sequence variant, genic downstream transcript variant |
| rs1390386790 |
CT>- |
Likely-pathogenic |
Frameshift variant, non coding transcript variant, downstream transcript variant, genic downstream transcript variant, coding sequence variant |
| rs1567690011 |
AG>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs1567721991 |
->GCTCTCCG |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant, intron variant |
|