CFH Chromosome 1

Complement factor H
130 variants 130 Health Risk

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What This Gene Does
This gene is a member of the Regulator of Complement Activation (RCA) gene cluster and encodes a protein with twenty short consensus repeat (SCR) domains. This protein is secreted into the bloodstream and has an essential role in the regulation of complement activation, restricting this innate defense mechanism to microbial infections. Mutations in this gene have been associated with hemolytic-uremic syndrome (HUS) and chronic hypocomplementemic nephropathy. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Oct 2011]
Gene Info
Gene Group
"Sushi domain containing|Complement system regulators and receptors"
Locus Type
gene with protein product
Location
1q31.3
Ensembl
ENSG00000000971
Associated Conditions (27)
Basal laminar drusen
Age related macular degeneration 4
CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
Hemolytic uremic syndrome
atypical
susceptibility to
1
Factor H deficiency
Atypical hemolytic-uremic syndrome
Kidney disorder
Retinal dystrophy
Chronic kidney disease
Complement 3 glomerulopathy
CFH-related disorder
Inborn genetic diseases
Familial Atypical Hemolytic-Uremic Syndrome
Optic atrophy
Familial cancer of breast
Malignant lymphoma
large B-cell
+7 more conditions
Key Variants
RS1061170
Conflicting classifications of pathogenicity
Basal laminar drusen, Age related macular degeneration 4, Basal laminar drusen
Health Risk
RS114743644
Conflicting classifications of pathogenicity
Age related macular degeneration 4, Basal laminar drusen, Atypical hemolytic-uremic syndrome
Health Risk
RS121913059
Conflicting classifications of pathogenicity
Factor H deficiency, Hemolytic uremic syndrome, atypical
Health Risk
RS1239695899
Conflicting classifications of pathogenicity
Age related macular degeneration 4, Age related macular degeneration 4
Health Risk
RS1351891195
Conflicting classifications of pathogenicity
Health Risk
RS1362306576
Conflicting classifications of pathogenicity
Factor H deficiency, Chronic kidney disease, Atypical hemolytic-uremic syndrome
Health Risk
RS139254423
Conflicting classifications of pathogenicity
Hemolytic uremic syndrome, atypical, susceptibility to
Health Risk
RS139360826
Conflicting classifications of pathogenicity
Atypical hemolytic-uremic syndrome, Hemolytic uremic syndrome, atypical
Health Risk
RS140107330
Conflicting classifications of pathogenicity
Hemolytic uremic syndrome, atypical, susceptibility to
Health Risk
RS1408473510
Conflicting classifications of pathogenicity
Hemolytic uremic syndrome, atypical, susceptibility to
Health Risk
RS141336681
Conflicting classifications of pathogenicity
Basal laminar drusen, Hemolytic uremic syndrome, atypical
Health Risk
RS141852866
Conflicting classifications of pathogenicity
Age related macular degeneration 4, Basal laminar drusen, Hemolytic uremic syndrome
Health Risk
All Variants (130)
RSID Category Clinical Significance Conditions
RS1061170 Health Risk Conflicting classifications of pathogenicity Basal laminar drusen, Age related macular degeneration 4, Basal laminar drusen
RS114743644 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 4, Basal laminar drusen, Atypical hemolytic-uremic syndrome
RS121913059 Health Risk Conflicting classifications of pathogenicity Factor H deficiency, Hemolytic uremic syndrome, atypical
RS1239695899 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 4, Age related macular degeneration 4
RS1351891195 Health Risk Conflicting classifications of pathogenicity —
RS1362306576 Health Risk Conflicting classifications of pathogenicity Factor H deficiency, Chronic kidney disease, Atypical hemolytic-uremic syndrome
RS139254423 Health Risk Conflicting classifications of pathogenicity Hemolytic uremic syndrome, atypical, susceptibility to
RS139360826 Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome, Hemolytic uremic syndrome, atypical
RS140107330 Health Risk Conflicting classifications of pathogenicity Hemolytic uremic syndrome, atypical, susceptibility to
RS1408473510 Health Risk Conflicting classifications of pathogenicity Hemolytic uremic syndrome, atypical, susceptibility to
RS141336681 Health Risk Conflicting classifications of pathogenicity Basal laminar drusen, Hemolytic uremic syndrome, atypical
RS141852866 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 4, Basal laminar drusen, Hemolytic uremic syndrome
RS142937931 Health Risk Conflicting classifications of pathogenicity CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II, Age related macular degeneration 4, Hemolytic uremic syndrome
RS143237092 Health Risk Conflicting classifications of pathogenicity Hemolytic uremic syndrome, atypical, susceptibility to
RS144325643 Health Risk Conflicting classifications of pathogenicity CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II, Basal laminar drusen, Hemolytic uremic syndrome
RS145347741 Health Risk Conflicting classifications of pathogenicity Basal laminar drusen, Age related macular degeneration 4, Hemolytic uremic syndrome
RS145975787 Health Risk Conflicting classifications of pathogenicity CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II, Basal laminar drusen, Hemolytic uremic syndrome
RS147403664 Health Risk Conflicting classifications of pathogenicity Basal laminar drusen, Hemolytic uremic syndrome, atypical
RS147864267 Health Risk Conflicting classifications of pathogenicity Kidney disorder, Factor H deficiency, Age related macular degeneration 4
RS148182625 Health Risk Conflicting classifications of pathogenicity Hemolytic uremic syndrome, atypical, susceptibility to
RS148403790 Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome, Atypical hemolytic-uremic syndrome
RS149474608 Health Risk Conflicting classifications of pathogenicity Basal laminar drusen, Hemolytic uremic syndrome, atypical
RS149938052 Health Risk Conflicting classifications of pathogenicity CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II, Age related macular degeneration 4, Basal laminar drusen
RS1573087364 Health Risk Conflicting classifications of pathogenicity Hemolytic uremic syndrome, atypical, susceptibility to
RS1652784548 Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome, Atypical hemolytic-uremic syndrome
RS1668856710 Health Risk Conflicting classifications of pathogenicity Hemolytic uremic syndrome, atypical, susceptibility to
RS183474263 Health Risk Conflicting classifications of pathogenicity Hemolytic uremic syndrome, atypical, susceptibility to
RS190778135 Health Risk Conflicting classifications of pathogenicity Basal laminar drusen, Hemolytic uremic syndrome, atypical
RS200079172 Health Risk Conflicting classifications of pathogenicity Hemolytic uremic syndrome, atypical, susceptibility to
RS201411537 Health Risk Conflicting classifications of pathogenicity Basal laminar drusen, Hemolytic uremic syndrome, atypical
RS201816520 Health Risk Conflicting classifications of pathogenicity Hemolytic uremic syndrome, atypical, susceptibility to
RS201961184 Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome, Inborn genetic diseases, Age related macular degeneration 4
RS2149108011 Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome, Atypical hemolytic-uremic syndrome
RS2149118712 Health Risk Conflicting classifications of pathogenicity Hemolytic uremic syndrome, atypical, susceptibility to
RS369496377 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hemolytic uremic syndrome, atypical
RS371053403 Health Risk Conflicting classifications of pathogenicity CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II, Hemolytic uremic syndrome, atypical
RS374729595 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 4, Hemolytic uremic syndrome, atypical
RS375176505 Health Risk Conflicting classifications of pathogenicity Hemolytic uremic syndrome, atypical, susceptibility to
RS377743610 Health Risk Conflicting classifications of pathogenicity Basal laminar drusen, Factor H deficiency, Hemolytic uremic syndrome
RS409953 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 4, Basal laminar drusen, Hemolytic uremic syndrome
RS460184 Health Risk Conflicting classifications of pathogenicity Hemolytic uremic syndrome, atypical, susceptibility to
RS513699 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 4, CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II, Hemolytic uremic syndrome
RS532344479 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Age related macular degeneration 4, Basal laminar drusen
RS572034879 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 4, CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II, Basal laminar drusen
RS62625015 Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome, Hemolytic uremic syndrome, atypical
RS746222626 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 4, Age related macular degeneration 4
RS748791414 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Malignant lymphoma, large B-cell
RS749875053 Health Risk Conflicting classifications of pathogenicity Basal laminar drusen, CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II, Hemolytic uremic syndrome
RS752302466 Health Risk Conflicting classifications of pathogenicity Basal laminar drusen, CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II, Hemolytic uremic syndrome
RS752610166 Health Risk Conflicting classifications of pathogenicity Basal laminar drusen, Factor H deficiency, Age related macular degeneration 4
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