CFH, complement factor H, 3075

N. diseases: 393; N. variants: 150
Disease: Kidney Diseases ×
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: C0022658
Disease: Kidney Diseases
Kidney Diseases 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 1.000 1 2011 2011
dbSNP: rs121913059
rs121913059 		0.716 0.280 1 196747245 missense variant C/T snv 1.4E-04 1.9E-04
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2016 2016
dbSNP: rs55807605
rs55807605 		1 196736919 missense variant G/A snv 1.4E-03 5.5E-04
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2017 2017