PRF1, perforin 1, 5551

N. diseases: 163; N. variants: 31
Disease: Systemic onset juvenile chronic arthritis ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs35947132
rs35947132 		0.776 0.280 10 70600631 missense variant G/A snv 2.9E-02 2.9E-02
CUI: C1384600
Disease: Systemic onset juvenile chronic arthritis
Systemic onset juvenile chronic arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.010 1.000 1 2010 2010