rs121918540(C;T)
From SNPedia
Carrier of a hemophagocytic lymphohistiocytosis (HLH) mutation |
Is a | genotype |
of | rs121918540 |
Gene | STXBP2 |
Chromosome | 19 |
Position | 7,646,322 |
mentioned | by |
Magnitude | 3 |
Repute | Bad |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 3 | Carrier of a hemophagocytic lymphohistiocytosis (HLH) mutation |
Unaffected in absence of a second STXBP2 gene mutation; see links via main rs-page.