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: 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: rs1061170
rs1061170 		0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64
CUI: C1853147
Disease: MACULAR DEGENERATION, AGE-RELATED, 4 (disorder)
MACULAR DEGENERATION, AGE-RELATED, 4 (disorder) 		Eye Diseases 0.700 0
dbSNP: rs1131690796
rs1131690796 		1.000 1 196728506 frameshift variant A/- del
CUI: C2749604
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 		0.700 0
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: 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: 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: rs121913057
rs121913057 		1.000 1 196737575 stop gained T/A;C snv 1.6E-05
CUI: C2749604
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 		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: C2749604
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 		0.700 0
dbSNP: rs121913060
rs121913060 		0.925 0.120 1 196747131 stop gained G/T snv 1.2E-05
CUI: C2749604
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 		0.700 0
dbSNP: rs121913061
rs121913061 		1.000 0.080 1 196690125 stop gained C/T snv
CUI: C0730295
Disease: BASAL LAMINAR DRUSEN (disorder)
BASAL LAMINAR DRUSEN (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs121913062
rs121913062 		1.000 0.080 1 196743552 missense variant G/T snv 6.8E-05 4.2E-05
CUI: C0730295
Disease: BASAL LAMINAR DRUSEN (disorder)
BASAL LAMINAR DRUSEN (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs121913063
rs121913063 		0.925 0.120 1 196747209 stop gained G/T snv
CUI: C2749604
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 		0.700 0
dbSNP: rs1410996
rs1410996 		0.807 0.240 1 196727803 intron variant G/A snv 0.46
CUI: C1853147
Disease: MACULAR DEGENERATION, AGE-RELATED, 4 (disorder)
MACULAR DEGENERATION, AGE-RELATED, 4 (disorder) 		Eye Diseases 0.700 0
dbSNP: rs148165372
rs148165372 		1.000 1 196725249 missense variant G/A snv 2.8E-04 4.1E-04
CUI: C2749604
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 		0.700 0
dbSNP: rs149474608
rs149474608 		0.925 0.120 1 196740686 missense variant G/A;T snv 8.0E-06; 3.9E-03
CUI: C2749604
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 		0.700 0
dbSNP: rs1553270437
rs1553270437 		1.000 1 196652175 missense variant G/A snv
CUI: C2749604
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 		0.700 0
dbSNP: rs1553273733
rs1553273733 		1.000 1 196679712 frameshift variant GT/- delins
CUI: C2749604
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 		0.700 0
dbSNP: rs1558162157
rs1558162157 		1.000 1 196690221 frameshift variant CCCAGATGCA/- del
CUI: C2749604
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 		0.700 0
dbSNP: rs201671665
rs201671665 		1.000 1 196690101 missense variant C/A snv 1.0E-04 1.9E-04
CUI: C2749604
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 		0.700 0
dbSNP: rs2274700
rs2274700 		0.776 0.240 1 196713817 synonymous variant G/A;C;T snv 0.44
CUI: C1853147
Disease: MACULAR DEGENERATION, AGE-RELATED, 4 (disorder)
MACULAR DEGENERATION, AGE-RELATED, 4 (disorder) 		Eye Diseases 0.700 0
dbSNP: rs387906550
rs387906550 		1.000 0.080 1 196673968 splice region variant T/G snv
CUI: C0730295
Disease: BASAL LAMINAR DRUSEN (disorder)
BASAL LAMINAR DRUSEN (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs570523689
rs570523689 		1.000 0.040 1 196713905 missense variant C/G;T snv 2.0E-05; 8.0E-06
CUI: C1853147
Disease: MACULAR DEGENERATION, AGE-RELATED, 4 (disorder)
MACULAR DEGENERATION, AGE-RELATED, 4 (disorder) 		Eye Diseases 0.700 0
dbSNP: rs796052136
rs796052136 		1.000 1 196747291 stop lost CAACTTGTGCAAAAAGATAGAATC/- delins
CUI: C2749604
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 		0.700 0