CFH, complement factor H, 3075

N. diseases: 225; N. variants: 112
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: rs121913059
rs121913059
0.744 0.214 1 196747245 missense variant C/T snp 1.4E-04 1.6E-04
CUI: C0398777
Disease: Complement Factor H Deficiency
Complement Factor H Deficiency
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 5 2003 2015
dbSNP: rs121913052
rs121913052
1.000 0.071 1 196715679 stop lost T/C snp
CUI: C0398777
Disease: Complement Factor H Deficiency
Complement Factor H Deficiency
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 3 1995 1999
dbSNP: rs121913054
rs121913054
1.000 0.071 1 196677613 stop gained G/A,T snp 2.0E-05 6.4E-05
CUI: C0398777
Disease: Complement Factor H Deficiency
Complement Factor H Deficiency
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 2 1988 2000
dbSNP: rs121913056
rs121913056
1.000 0.071 1 196690194 missense variant T/A,G snp 4.0E-06; 4.0E-06
CUI: C0398777
Disease: Complement Factor H Deficiency
Complement Factor H Deficiency
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 2 1987 2004
dbSNP: rs121913053
rs121913053
1.000 0.071 1 196740712 missense variant G/A snp
CUI: C0398777
Disease: Complement Factor H Deficiency
Complement Factor H Deficiency
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1 1997 1997
dbSNP: rs121913058
rs121913058
1.000 0.071 1 196676018 missense variant G/A,C,T snp 8.0E-06 3.2E-05
CUI: C0398777
Disease: Complement Factor H Deficiency
Complement Factor H Deficiency
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1 2004 2004
dbSNP: rs796052138
rs796052138
1.000 0.071 1 196679674 inframe deletion AAGA/A in-del
CUI: C0398777
Disease: Complement Factor H Deficiency
Complement Factor H Deficiency
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1 2006 2006