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rs796065024

From SNPedia

ClinVar
Risk rs796065024(;)
Alt rs796065024(;)
Reference rs796065024(CGCGCTGTGCAG;CGCGCTGTGCAG)
Significance Pathogenic
Disease Hemophagocytic lymphohistiocytosis
Variation info
Gene UNC13D
CLNDBN Hemophagocytic lymphohistiocytosis, familial, 3
Reversed 1
HGVS NC_000017.10:g.73831499_73831510delCTGCACAGCGCG
CLNSRC OMIM Allelic Variant
CLNACC RCV000002073.3,