| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs3729732 |
G>A |
Uncertain-significance, pathogenic |
Coding sequence variant, stop gained |
|
rs3729751 |
G>A,T |
Likely-pathogenic, likely-benign, uncertain-significance, benign |
Coding sequence variant, synonymous variant, missense variant |
|
rs10637374 |
CACACACACACACACA>-,CA,CACA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACAC |
Likely-benign, benign, uncertain-significance, conflicting-interpretations-of-pathogenicity |
Intron variant |
|
rs79040751 |
G>A,C,T |
Likely-pathogenic, uncertain-significance, benign-likely-benign, benign |
Coding sequence variant, missense variant |
|
rs121912501 |
G>A,C |
Pathogenic |
Stop gained, coding sequence variant, missense variant |
|
rs139848756 |
T>C |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant |
|
rs145163157 |
T>C |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant |
|
rs151282774 |
T>C,G |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant |
|
rs199775294 |
G>A |
Likely-pathogenic |
Coding sequence variant, stop gained |
|
rs201711670 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant |
|
rs779829941 |
G>A,C |
Pathogenic |
Coding sequence variant, stop gained, missense variant |
|
rs786205647 |
C>T |
Likely-pathogenic |
Splice donor variant |
|
rs863225047 |
G>C |
Pathogenic |
Coding sequence variant, missense variant |
|
rs886041545 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs886042160 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1114167358 |
CTAA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1242667371 |
CT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1430793861 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1554020702 |
T>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs1561159768 |
GAAA>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs1561179853 |
GTTA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1580117891 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |