| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs28940308 |
G>A |
Pathogenic |
Coding sequence variant, missense variant |
|
rs61752129 |
C>-,CC |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs61752132 |
T>C |
Uncertain-significance, pathogenic |
Coding sequence variant, missense variant |
|
rs61752133 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs62641228 |
C>G,T |
Pathogenic |
Coding sequence variant, missense variant |
|
rs62641229 |
G>A,C |
Pathogenic |
Stop gained, coding sequence variant, missense variant |
|
rs74315506 |
T>C,G |
Likely-pathogenic, pathogenic |
Initiator codon variant, missense variant |
|
rs142072315 |
C>G |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant |
|
rs149153003 |
C>A,T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign |
Coding sequence variant, intron variant, missense variant |
|
rs200880379 |
A>C,G |
Conflicting-interpretations-of-pathogenicity |
Intron variant |
|
rs201884779 |
A>G |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant |
|
rs267608190 |
G>T |
Pathogenic |
Splice donor variant |
|
rs374381444 |
A>G |
Conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant |
|
rs375516973 |
C>T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Synonymous variant, coding sequence variant |
|
rs751507771 |
A>G |
Conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant |
|
rs770611373 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant |
|
rs786205556 |
C>T |
Likely-pathogenic |
Synonymous variant, coding sequence variant |
|
rs886039598 |
T>C |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1556586479 |
G>A |
Likely-pathogenic |
Coding sequence variant, stop gained |
|
rs1556589033 |
G>- |
Likely-pathogenic |
Coding sequence variant, splice donor variant |