| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs483352822 |
C>A,G,T |
Pathogenic, not-provided |
Coding sequence variant, missense variant |
|
rs563231684 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant |
|
rs672601334 |
G>C |
Pathogenic |
Coding sequence variant, missense variant |
|
rs672601335 |
C>G |
Pathogenic |
Coding sequence variant, missense variant |
|
rs730881014 |
A>C,G,T |
Pathogenic |
Synonymous variant, coding sequence variant, missense variant |
|
rs777520196 |
C>A,T |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs868208063 |
A>C,G |
Pathogenic |
Missense variant, coding sequence variant |
|
rs869025189 |
C>G |
Pathogenic |
Missense variant, coding sequence variant, intron variant |
|
rs869025190 |
C>A |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs869025191 |
C>A,G,T |
Pathogenic, likely-pathogenic, pathogenic-likely-pathogenic |
Missense variant, coding sequence variant |
|
rs869025192 |
C>G |
Pathogenic |
Missense variant, coding sequence variant |
|
rs869025193 |
T>C |
Pathogenic |
Missense variant, coding sequence variant |
|
rs869025194 |
A>C,G,T |
Pathogenic, uncertain-significance |
Missense variant, coding sequence variant |
|
rs869025195 |
T>G |
Pathogenic |
Missense variant, coding sequence variant |
|
rs869025196 |
G>A |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs869025197 |
A>G |
Pathogenic |
Missense variant, coding sequence variant |
|
rs869312687 |
T>G |
Conflicting-interpretations-of-pathogenicity, likely-pathogenic, uncertain-significance |
Missense variant, coding sequence variant, intron variant |
|
rs886041414 |
C>G |
Pathogenic |
Coding sequence variant, missense variant |
|
rs1557960039 |
T>C |
Pathogenic |
Coding sequence variant, missense variant |
|
rs1557960268 |
C>T |
Likely-pathogenic, uncertain-significance |
Coding sequence variant, missense variant |
|
rs1557962794 |
T>G |
Pathogenic |
Intron variant, coding sequence variant, missense variant |
|
rs1571999498 |
C>G |
Pathogenic |
Intron variant, coding sequence variant, missense variant |