PRF1, perforin 1, 5551

N. diseases: 163; N. variants: 31
Disease: Aplastic Anemia ×
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: rs193302875
rs193302875 		1.000 0.040 10 70598558 missense variant C/A snv
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		Hemic and Lymphatic Diseases 0.700 0