SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs140585347 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Missense variant, upstream transcript variant, coding sequence variant, genic upstream transcript variant |
rs200806519 |
C>A,T |
Pathogenic |
Genic upstream transcript variant, coding sequence variant, upstream transcript variant, synonymous variant, missense variant |
rs369445146 |
C>A |
Pathogenic, likely-pathogenic |
Genic upstream transcript variant, missense variant, coding sequence variant, upstream transcript variant |
rs371307766 |
C>G,T |
Likely-pathogenic |
Genic upstream transcript variant, missense variant, coding sequence variant, upstream transcript variant |
rs373148099 |
G>A |
Pathogenic |
Missense variant, coding sequence variant, 5 prime UTR variant |
rs376245108 |
C>A,T |
Pathogenic |
Missense variant, coding sequence variant |
rs533584507 |
C>A,T |
Likely-pathogenic |
Missense variant, coding sequence variant, intron variant, genic upstream transcript variant |
rs746575171 |
G>A,C |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs753687060 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs766188849 |
C>T |
Pathogenic |
5 prime UTR variant, coding sequence variant, missense variant |
rs766215523 |
C>T |
Likely-pathogenic |
Coding sequence variant, missense variant |
rs767462752 |
->GTACGAGGATGCAGTTTTGT |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
rs781053760 |
T>C |
Pathogenic-likely-pathogenic, pathogenic |
Genic upstream transcript variant, missense variant, coding sequence variant, upstream transcript variant |
rs922934422 |
C>T |
Likely-pathogenic |
Upstream transcript variant, missense variant, coding sequence variant, genic upstream transcript variant, 5 prime UTR variant |
rs938583000 |
C>- |
Likely-pathogenic |
Coding sequence variant, intron variant, genic upstream transcript variant, frameshift variant |
rs1170446813 |
C>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
rs1182312612 |
G>A,C |
Pathogenic |
Coding sequence variant, intron variant, genic upstream transcript variant, missense variant |
rs1207879599 |
C>G,T |
Pathogenic |
Genic upstream transcript variant, coding sequence variant, missense variant, intron variant |
rs1231123861 |
C>A,T |
Pathogenic |
Coding sequence variant, intron variant, missense variant, genic upstream transcript variant |
rs1373230987 |
C>G,T |
Likely-pathogenic |
Coding sequence variant, missense variant, genic upstream transcript variant, intron variant |
rs1407871103 |
A>C,G |
Pathogenic |
Upstream transcript variant, coding sequence variant, genic upstream transcript variant, missense variant |
rs1554138062 |
T>C |
Likely-pathogenic, pathogenic |
Missense variant, coding sequence variant |
rs1554139129 |
->GTCA |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1561853847 |
C>T |
Pathogenic |
Genic upstream transcript variant, missense variant, coding sequence variant, intron variant |
rs1561864453 |
G>T |
Pathogenic |
Upstream transcript variant, coding sequence variant, stop gained, genic upstream transcript variant |
rs1582046125 |
T>C |
Pathogenic |
Genic upstream transcript variant, missense variant, coding sequence variant, intron variant |
rs1582078740 |
A>G |
Pathogenic |
Genic upstream transcript variant, upstream transcript variant, coding sequence variant, missense variant |
rs1582081682 |
T>C |
Pathogenic |
Missense variant, coding sequence variant, 5 prime UTR variant |
rs1582086407 |
TAC>- |
Pathogenic |
Coding sequence variant, inframe deletion |
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