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: rs1061170
rs1061170
0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64
CUI: C0243026
Disease: Sepsis
Sepsis
Pathological Conditions, Signs and Symptoms; Infections 0.020 1.000 2 2010 2020
dbSNP: rs1065489
rs1065489
0.695 0.440 1 196740644 missense variant G/T snv 0.20 0.15
CUI: C0243026
Disease: Sepsis
Sepsis
Pathological Conditions, Signs and Symptoms; Infections 0.010 1.000 1 2020 2020