| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs41266761 |
C>T |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant |
|
rs151324784 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant |
|
rs200201449 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant |
|
rs200443479 |
G>A,T |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, intron variant, missense variant |
|
rs200487396 |
G>A,T |
Uncertain-significance, pathogenic |
Coding sequence variant, missense variant |
|
rs201337277 |
G>A,T |
Uncertain-significance, likely-pathogenic |
Coding sequence variant, missense variant, synonymous variant |
|
rs371399251 |
G>A,T |
Pathogenic |
Synonymous variant, coding sequence variant, stop gained |
|
rs375760724 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant |
|
rs755536829 |
T>C |
Uncertain-significance, likely-pathogenic |
Coding sequence variant, missense variant |
|
rs796052093 |
A>G |
Pathogenic, likely-pathogenic |
Missense variant, coding sequence variant |
|
rs796052094 |
C>T |
Pathogenic |
Missense variant, coding sequence variant |
|
rs875989819 |
C>T |
Pathogenic |
Splice donor variant |
|
rs984314526 |
G>A,C |
Pathogenic |
Stop gained, missense variant, coding sequence variant |
|
rs1064795770 |
A>G |
Likely-pathogenic |
Splice donor variant |
|
rs1064797326 |
C>T |
Likely-pathogenic |
Splice donor variant |
|
rs1131691587 |
G>A |
Likely-pathogenic |
Intron variant, coding sequence variant, missense variant |
|
rs1131691933 |
G>A |
Likely-pathogenic |
Stop gained, coding sequence variant |
|
rs1274606112 |
C>T |
Likely-pathogenic |
Splice donor variant |
|
rs1329022055 |
G>A |
Pathogenic |
Intron variant, stop gained, coding sequence variant |
|
rs1366112521 |
C>T |
Likely-pathogenic |
Splice donor variant |
|
rs1471550984 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1554168326 |
C>T |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1554169319 |
C>T |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1554182935 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1562223444 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1562294703 |
G>A |
Likely-pathogenic |
Coding sequence variant, stop gained, intron variant |
|
rs1562310723 |
T>G |
Likely-pathogenic |
Splice acceptor variant, intron variant |
|
rs1582025807 |
->T |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs1582068925 |
GT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1582133194 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1582139761 |
A>C |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1582196903 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant, intron variant |
|
rs1582208315 |
->T |
Likely-pathogenic |
Coding sequence variant, frameshift variant, intron variant |