| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs28937880 |
G>A |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, coding sequence variant |
|
rs139037316 |
G>A |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant |
|
rs140378669 |
C>T |
Conflicting-interpretations-of-pathogenicity, benign |
Coding sequence variant, synonymous variant |
|
rs142036030 |
G>A |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Coding sequence variant, synonymous variant |
|
rs143570842 |
C>G,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign |
Missense variant, coding sequence variant |
|
rs146772848 |
G>A |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, coding sequence variant |
|
rs147617265 |
C>G,T |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant |
|
rs149172723 |
C>T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign |
Coding sequence variant, synonymous variant |
|
rs151221957 |
A>T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, coding sequence variant |
|
rs187176143 |
G>A |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign |
Intron variant |
|
rs370805254 |
G>C |
Conflicting-interpretations-of-pathogenicity |
Intron variant |
|
rs398122523 |
G>A |
Pathogenic |
Splice donor variant |
|
rs730882200 |
->C |
Pathogenic, likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs1057520166 |
C>T |
Likely-pathogenic |
Stop gained, coding sequence variant |
|
rs1380925561 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1555811929 |
CC>T |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1600546214 |
->A |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs1600623496 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |