| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
| rs143038880 |
G>A |
Pathogenic |
Non coding transcript variant, coding sequence variant, stop gained |
| rs143960563 |
C>T |
Likely-benign, likely-pathogenic |
Non coding transcript variant, genic downstream transcript variant, coding sequence variant, missense variant |
| rs587777202 |
C>A,G,T |
Pathogenic |
Splice donor variant, genic downstream transcript variant |
| rs587777378 |
AGA>- |
Pathogenic |
5 prime UTR variant, inframe deletion, non coding transcript variant, coding sequence variant |
| rs750079325 |
C>T |
Pathogenic |
Splice donor variant |
| rs767774867 |
->TA |
Pathogenic, likely-pathogenic |
Genic downstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant |
| rs781325598 |
GTAT>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs869025578 |
A>T |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained, genic downstream transcript variant |
| rs869025579 |
GGA>- |
Pathogenic |
Inframe deletion, coding sequence variant, non coding transcript variant, 5 prime UTR variant |
| rs869025580 |
TTAGT>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant |
| rs869025581 |
T>C |
Pathogenic |
Splice acceptor variant |
| rs1169608420 |
C>A |
Likely-pathogenic |
Genic downstream transcript variant, stop gained, coding sequence variant, non coding transcript variant |
| rs1361547443 |
A>T |
Likely-pathogenic |
Genic downstream transcript variant, coding sequence variant, stop gained, non coding transcript variant |
| rs1364192556 |
G>A |
Likely-pathogenic |
5 prime UTR variant, coding sequence variant, stop gained, non coding transcript variant |
| rs1410587479 |
G>A |
Pathogenic |
5 prime UTR variant, non coding transcript variant, stop gained, coding sequence variant |
| rs1441509615 |
C>T |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, stop gained |
| rs1559328283 |
T>G |
Likely-pathogenic |
Splice acceptor variant, genic downstream transcript variant |
| rs1576086299 |
G>C |
Likely-pathogenic |
Stop gained, non coding transcript variant, genic downstream transcript variant, coding sequence variant |
| rs1576164991 |
T>A |
Likely-pathogenic |
Stop gained, non coding transcript variant, intron variant, coding sequence variant |
|