| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
| rs118204013 |
A>G |
Pathogenic |
Intron variant, coding sequence variant, missense variant |
| rs267607111 |
T>C |
Pathogenic |
Missense variant, intron variant, coding sequence variant |
| rs267607112 |
C>A,T |
Pathogenic, likely-pathogenic |
Missense variant, coding sequence variant |
| rs377725442 |
C>T |
Likely-pathogenic |
Coding sequence variant, missense variant, 3 prime UTR variant |
| rs387907176 |
T>C |
Pathogenic |
Coding sequence variant, missense variant |
| rs387907177 |
T>G |
Pathogenic |
Coding sequence variant, missense variant |
| rs749414480 |
TTCT>- |
Likely-pathogenic |
Splice acceptor variant, coding sequence variant |
| rs1064797344 |
G>A |
Likely-pathogenic |
Missense variant, coding sequence variant |
| rs1131691345 |
G>A,C |
Likely-pathogenic, uncertain-significance |
Missense variant, 3 prime UTR variant, coding sequence variant, stop gained |
| rs1554599616 |
G>A |
Pathogenic |
Coding sequence variant, synonymous variant, stop gained |
| rs1554599712 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant, intron variant |
| rs1554599983 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
| rs1563644456 |
->G |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1563644810 |
TTG>- |
Pathogenic |
Coding sequence variant, intron variant, inframe deletion |
| rs1563646198 |
A>G |
Likely-pathogenic |
Missense variant, initiator codon variant |
| rs1586456278 |
T>- |
Pathogenic |
3 prime UTR variant, coding sequence variant, frameshift variant |
| rs1586456293 |
G>- |
Pathogenic |
3 prime UTR variant, coding sequence variant, frameshift variant |
| rs1586456350 |
GA>- |
Pathogenic |
3 prime UTR variant, coding sequence variant, frameshift variant |
| rs1586456404 |
G>A |
Pathogenic |
Stop gained, synonymous variant, coding sequence variant |
| rs1586457060 |
GTTTA>TAAACCC |
Pathogenic |
Intron variant, coding sequence variant, frameshift variant |
| rs1586457084 |
C>- |
Pathogenic |
Intron variant, coding sequence variant, frameshift variant |
| rs1586459408 |
C>T |
Likely-pathogenic |
Missense variant, coding sequence variant |
| rs1586459413 |
C>T |
Likely-pathogenic |
Missense variant, coding sequence variant |