| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
| rs148737918 |
C>G,T |
Likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs369245990 |
G>A,C |
Likely-pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
| rs549556142 |
C>A,T |
Pathogenic |
Coding sequence variant, synonymous variant, stop gained, non coding transcript variant |
| rs759201338 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant, 5 prime UTR variant, intron variant, non coding transcript variant, genic upstream transcript variant |
| rs765155697 |
C>T |
Likely-pathogenic |
Coding sequence variant, intron variant, stop gained, non coding transcript variant, 5 prime UTR variant |
| rs771622183 |
C>G,T |
Pathogenic |
Coding sequence variant, non coding transcript variant, synonymous variant, stop gained, 5 prime UTR variant |
| rs777112652 |
C>T |
Pathogenic |
Coding sequence variant, stop gained, non coding transcript variant |
| rs876661408 |
C>T |
Pathogenic |
Coding sequence variant, stop gained, non coding transcript variant |
| rs1339709390 |
A>C |
Likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs1553191001 |
C>G |
Pathogenic |
Intron variant |
| rs1571346132 |
GC>- |
Pathogenic |
Coding sequence variant, frameshift variant, genic downstream transcript variant, non coding transcript variant |
|