CFH, complement factor H, 3075

N. diseases: 225; N. variants: 112
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: rs121913060
rs121913060
1.000 0.107 1 196747131 stop gained G/T snp 1.2E-05
CUI: C0019061
Disease: Hemolytic-Uremic Syndrome
Hemolytic-Uremic Syndrome
Female Urogenital Diseases and Pregnancy Complications; Hemic and Lymphatic Diseases; Male Urogenital Diseases 0.010 1.000 1 2007 2007