| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs142974468 |
C>T |
Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance |
Genic downstream transcript variant, coding sequence variant, missense variant |
|
rs145897776 |
C>T |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Synonymous variant, intron variant, coding sequence variant |
|
rs149278319 |
C>A,G,T |
Benign-likely-benign, pathogenic, likely-benign |
Coding sequence variant, missense variant, synonymous variant |
|
rs369098407 |
T>G |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Synonymous variant, genic downstream transcript variant, coding sequence variant, intron variant |
|
rs373354100 |
C>A,G |
Conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
|
rs375911119 |
A>C |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, genic downstream transcript variant, coding sequence variant |
|
rs387907046 |
T>C |
Pathogenic |
Missense variant, coding sequence variant |
|
rs387907047 |
C>G |
Pathogenic |
Missense variant, coding sequence variant |
|
rs387907150 |
T>A,C |
Likely-pathogenic, pathogenic |
Missense variant, coding sequence variant |
|
rs552613359 |
G>A,T |
Conflicting-interpretations-of-pathogenicity |
Intron variant |
|
rs556999563 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, intron variant, coding sequence variant, missense variant |
|
rs759982570 |
C>G,T |
Pathogenic |
Synonymous variant, coding sequence variant, missense variant |
|
rs869320700 |
T>G |
Pathogenic |
Coding sequence variant, missense variant |
|
rs869320701 |
T>A,G |
Pathogenic, likely-pathogenic |
Coding sequence variant, missense variant |
|
rs869320702 |
G>A |
Pathogenic |
Intron variant |
|
rs886042415 |
T>G |
Conflicting-interpretations-of-pathogenicity |
Intron variant |
|
rs1252030610 |
G>A,T |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Coding sequence variant, intron variant, synonymous variant, genic downstream transcript variant |