CFD, complement factor D, 1675

N. diseases: 83; N. variants: 4
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: rs104894667
rs104894667
1.000 0.080 19 860686 stop gained C/A;T snv 1.4E-05; 6.9E-06
CUI: C0398764
Disease: Complement Factor D Deficiency
Complement Factor D Deficiency
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases 0.700 0
dbSNP: rs267606720
rs267606720
1.000 0.080 19 863114 missense variant T/G snv 7.3E-06
CUI: C0398764
Disease: Complement Factor D Deficiency
Complement Factor D Deficiency
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases 0.700 0
dbSNP: rs267606721
rs267606721
1.000 0.080 19 863116 missense variant T/C snv 7.3E-06
CUI: C0398764
Disease: Complement Factor D Deficiency
Complement Factor D Deficiency
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases 0.700 0