| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
| rs398122923 |
G>A |
Pathogenic |
Missense variant, coding sequence variant, genic upstream transcript variant |
| rs398122924 |
C>A |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, stop gained |
| rs398122925 |
G>A |
Pathogenic |
Missense variant, coding sequence variant, genic upstream transcript variant |
| rs398122926 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant, genic upstream transcript variant |
| rs398122927 |
->A |
Pathogenic |
5 prime UTR variant, frameshift variant, genic downstream transcript variant, coding sequence variant |
| rs398122928 |
C>T |
Pathogenic |
Intron variant, coding sequence variant, stop gained, genic upstream transcript variant |
| rs766177601 |
T>C |
Pathogenic |
Genic upstream transcript variant, intron variant |
| rs1057519098 |
GA>- |
Likely-pathogenic |
Frameshift variant, genic upstream transcript variant, coding sequence variant |
| rs1064794741 |
G>A |
Likely-pathogenic |
Missense variant, genic downstream transcript variant, coding sequence variant |
| rs1252185897 |
C>T |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, stop gained |
| rs1555646537 |
G>T |
Likely-pathogenic |
Genic upstream transcript variant, splice donor variant |
| rs1568010705 |
G>T |
Likely-pathogenic |
Genic upstream transcript variant, stop gained, coding sequence variant |
| rs1598429555 |
C>T |
Likely-pathogenic |
Coding sequence variant, genic upstream transcript variant, missense variant |