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: rs121913054
rs121913054
1.000 0.160 1 196677613 stop gained G/A;T snv 2.0E-05
CUI: C0398777
Disease: Complement Factor H Deficiency
Complement Factor H Deficiency
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases 0.700 0
dbSNP: rs575109631
rs575109631
0.925 0.200 1 196745862 missense variant A/G snv 4.0E-06
CUI: C0398777
Disease: Complement Factor H Deficiency
Complement Factor H Deficiency
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases 0.700 1.000 8 1997 2006
dbSNP: rs62625015
rs62625015
1.000 0.160 1 196743544 missense variant C/G snv 3.9E-04 2.4E-04
CUI: C0398777
Disease: Complement Factor H Deficiency
Complement Factor H Deficiency
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases 0.700 1.000 8 1997 2006
dbSNP: rs121913052
rs121913052
1.000 0.160 1 196715679 missense variant T/C snv
CUI: C0398777
Disease: Complement Factor H Deficiency
Complement Factor H Deficiency
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases 0.700 0
dbSNP: rs121913053
rs121913053
1.000 0.160 1 196740712 missense variant G/A snv
CUI: C0398777
Disease: Complement Factor H Deficiency
Complement Factor H Deficiency
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases 0.700 0
dbSNP: rs121913056
rs121913056
1.000 0.160 1 196690194 missense variant T/A;G snv 4.0E-06; 4.0E-06
CUI: C0398777
Disease: Complement Factor H Deficiency
Complement Factor H Deficiency
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases 0.700 0
dbSNP: rs121913058
rs121913058
0.925 0.200 1 196676018 missense variant G/A;C;T snv 8.0E-06
CUI: C0398777
Disease: Complement Factor H Deficiency
Complement Factor H Deficiency
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases 0.700 0
dbSNP: rs121913059
rs121913059
0.716 0.280 1 196747245 missense variant C/T snv 1.4E-04 1.9E-04
CUI: C0398777
Disease: Complement Factor H Deficiency
Complement Factor H Deficiency
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases 0.800 0
dbSNP: rs796052138
rs796052138
1.000 0.160 1 196679671 inframe deletion AGA/- delins
CUI: C0398777
Disease: Complement Factor H Deficiency
Complement Factor H Deficiency
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases 0.700 0