| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs745806637 |
C>-,CC |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, frameshift variant |
|
rs751232315 |
G>A,C |
Likely-pathogenic |
Coding sequence variant, synonymous variant, missense variant |
|
rs766951273 |
C>T |
Pathogenic |
Coding sequence variant, missense variant |
|
rs869312871 |
G>T |
Pathogenic, likely-pathogenic |
Missense variant, coding sequence variant |
|
rs878853011 |
G>A |
Pathogenic, likely-pathogenic |
Missense variant, coding sequence variant |
|
rs878853252 |
->CTGGAGGAGCTGAGGAGGGAGC |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs878853270 |
G>C |
Pathogenic, likely-pathogenic |
Missense variant, coding sequence variant |
|
rs897627996 |
A>G |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant |
|
rs1057520747 |
T>C |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1057524139 |
T>C |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1064793252 |
->AGGTGG |
Pathogenic |
Coding sequence variant, inframe insertion |
|
rs1064795726 |
A>G |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1321809020 |
T>C |
Pathogenic |
Missense variant, coding sequence variant |
|
rs1553153669 |
A>T |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs1553154130 |
T>A,C |
Likely-pathogenic, pathogenic-likely-pathogenic |
Coding sequence variant, missense variant |
|
rs1553155581 |
->CC |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs1553155778 |
G>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs1557461427 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant, genic upstream transcript variant |
|
rs1557582259 |
G>A |
Pathogenic |
Coding sequence variant, missense variant |
|
rs1557582271 |
A>G |
Pathogenic |
Coding sequence variant, missense variant |
|
rs1557586047 |
->C |
Likely-pathogenic |
Coding sequence variant, frameshift variant |