| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
| rs80356753 |
A>G |
Pathogenic |
Genic upstream transcript variant, upstream transcript variant, splice acceptor variant |
| rs80356754 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80356755 |
G>T |
Pathogenic |
Coding sequence variant, stop gained |
| rs80356756 |
A>- |
Pathogenic-likely-pathogenic |
Frameshift variant, coding sequence variant |
| rs80356758 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
| rs138716143 |
G>T |
Conflicting-interpretations-of-pathogenicity, benign-likely-benign |
Missense variant, coding sequence variant |
| rs138886791 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant |
| rs139680786 |
C>A,T |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Synonymous variant, coding sequence variant |
| rs142454880 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant |
| rs143142641 |
G>A,T |
Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance |
Missense variant, coding sequence variant |
| rs146156426 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant |
| rs146967928 |
A>T |
Conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs150508296 |
T>C,G |
Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, synonymous variant, coding sequence variant |
| rs189175284 |
G>A |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Intron variant, genic upstream transcript variant |
| rs367543007 |
CA>- |
Pathogenic |
Intron variant, splice acceptor variant |
| rs374480381 |
G>A |
Pathogenic |
Splice donor variant |
| rs398124257 |
T>C |
Pathogenic |
Genic upstream transcript variant, splice donor variant, upstream transcript variant |
| rs745590426 |
->C |
Pathogenic |
Frameshift variant, coding sequence variant, genic upstream transcript variant |
| rs1566294545 |
GGCGTCT>- |
Pathogenic |
Frameshift variant, coding sequence variant |