| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs71579374 |
A>G |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign |
Missense variant, coding sequence variant |
|
rs71579375 |
C>A,G |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign |
Intron variant, coding sequence variant, missense variant |
|
rs121917776 |
C>T |
Pathogenic, uncertain-significance |
Missense variant, coding sequence variant, intron variant |
|
rs141033098 |
A>C |
Benign-likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign |
Missense variant, coding sequence variant |
|
rs150385900 |
G>C |
Uncertain-significance, conflicting-interpretations-of-pathogenicity, benign, benign-likely-benign |
Coding sequence variant, missense variant |
|
rs189242810 |
C>T |
Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance |
Coding sequence variant, missense variant |
|
rs200624351 |
C>A |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant |
|
rs367598954 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Intron variant |
|
rs373744314 |
T>C |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant |
|
rs397517237 |
GTT>- |
Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, inframe deletion, intron variant |
|
rs397517244 |
C>T |
Likely-pathogenic, uncertain-significance |
Coding sequence variant, stop gained |
|
rs397517245 |
->A |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs727503738 |
A>G |
Likely-pathogenic |
Splice acceptor variant |
|
rs727503741 |
C>T |
Likely-pathogenic |
Coding sequence variant, stop gained |
|
rs727504381 |
C>T |
Likely-pathogenic |
Coding sequence variant, stop gained |
|
rs779488376 |
A>- |
Uncertain-significance, likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs781036800 |
CT>- |
Uncertain-significance, likely-pathogenic |
Coding sequence variant, intron variant, frameshift variant |
|
rs863225121 |
G>T |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs876657674 |
->G |
Likely-pathogenic |
Coding sequence variant, frameshift variant |