PRF1, perforin 1, 5551

N. diseases: 163; N. variants: 31
Disease: Macrophage Activation Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs35947132
rs35947132
Entrez Id: 5551
Gene Symbol: PRF1
PRF1
CUI: C1096155
Disease:
Macrophage Activation Syndrome 		0.010 GeneticVariation BEFREE One SoJIA patient, heterozygous for Ala91</span>Val, showed profound decreased perforin levels at the time of MAS. 20019066 2010