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rs121918541(C;T)

From SNPedia
(Redirected from I5001588(C;T))
Carrier of a hemophagocytic lymphohistiocytosis (HLH) mutation
Is agenotype
ofrs121918541
GeneSTXBP2
Chromosome19
Position7,642,081
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(C;T) 3 Carrier of a hemophagocytic lymphohistiocytosis (HLH) mutation
(T;T) 0 common in clinvar

Unaffected in absence of a second STXBP2 gene mutation; see links via main rs-page.