SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs75134564 |
G>A |
Likely-benign, pathogenic, benign |
Coding sequence variant, missense variant, non coding transcript variant, genic upstream transcript variant |
rs76956231 |
G>A |
Benign, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant, non coding transcript variant, genic upstream transcript variant |
rs121909299 |
G>C |
Pathogenic |
Stop gained, coding sequence variant, non coding transcript variant |
rs121909300 |
C>A |
Pathogenic |
Missense variant, non coding transcript variant, downstream transcript variant, coding sequence variant, genic downstream transcript variant |
rs121909301 |
C>T |
Pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
rs121909302 |
C>T |
Pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
rs121909303 |
C>T |
Pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
rs144283422 |
G>A,C |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, non coding transcript variant, synonymous variant, coding sequence variant, genic downstream transcript variant |
rs267606930 |
A>T |
Pathogenic |
Genic upstream transcript variant, missense variant, coding sequence variant, non coding transcript variant |
rs748715820 |
AA>-,A,AAA,AAAA |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Genic upstream transcript variant, intron variant |
rs1327401976 |
G>A |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, missense variant, non coding transcript variant, downstream transcript variant |
rs1561081472 |
C>T |
Pathogenic |
Intron variant |
rs1561128268 |
C>G |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, missense variant, genic upstream transcript variant |
rs1579884900 |
G>A |
Likely-pathogenic |
Non coding transcript variant, stop gained, coding sequence variant, genic upstream transcript variant |
rs1579903197 |
C>T |
Likely-pathogenic |
Non coding transcript variant, missense variant, coding sequence variant, genic upstream transcript variant |
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