rs1064644(C;T)
From SNPedia
Carrier of a Gaucher disease mutation |
Is a | genotype |
of | rs1064644 |
Gene | GBA |
Chromosome | 1 |
Position | 155,238,192 |
mentioned | by |
Magnitude | 3 |
Repute | Bad |
Geno | Mag | Summary |
---|---|---|
(C;T) | 3 | Carrier of a Gaucher disease mutation |
(T;T) | 0 | common in clinvar |
Unaffected in absence of a second GBA gene mutation; see text and links via main rs-page