CFH, complement factor H, 3075

N. diseases: 393; N. variants: 150
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: rs6677604
rs6677604
0.827 0.200 1 196717788 intron variant G/A snv 0.23
CUI: C0017661
Disease: IGA Glomerulonephritis
IGA Glomerulonephritis
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases 0.750 1.000 6 2014 2020
dbSNP: rs800292
rs800292
0.645 0.560 1 196673103 missense variant G/A snv 0.32 0.40
CUI: C0017661
Disease: IGA Glomerulonephritis
IGA Glomerulonephritis
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases 0.010 1.000 1 2018 2018