PRF1, perforin 1, 5551

N. diseases: 163; N. variants: 31
Disease: Familial (FPAH) ×
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: rs189650890
rs189650890 		0.925 0.040 10 70598372 missense variant G/A snv 2.8E-05
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2009 2009