Variant: rs104894181 

    present in Gene: PRF1
    present in Chromosome: 10
    Position on Chromosome: 70598435
    Alleles of this Variant: C/T

rs104894181 in PRF1 gene and HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 PMID 11179007 2001 Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis.

PMID 10583959 1999 Perforin gene defects in familial hemophagocytic lymphohistiocytosis.