C5, complement C5, 727

N. diseases: 129; N. variants: 20
Disease: Familial Mediterranean Fever ×
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: rs141829974
rs141829974 		1.000 0.040 9 121037923 synonymous variant G/A snv 2.6E-04 8.0E-04
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.010 1.000 1 2010 2010