Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894181
rs104894181
PRF1
0.800 GeneticVariation UNIPROT Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis. 11179007

2001
dbSNP: rs104894181
rs104894181
PRF1
0.800 GeneticVariation UNIPROT Perforin gene defects in familial hemophagocytic lymphohistiocytosis. 10583959

1999
dbSNP: rs104894181
rs104894181
PRF1
T 0.800 CausalMutation CLINVAR