C3, complement C3, 718

N. diseases: 343; N. variants: 49
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: rs2230205
rs2230205 		0.882 0.200 19 6709693 synonymous variant C/T snv 0.17 0.14
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.010 1.000 1 2009 2009
dbSNP: rs2230205
rs2230205 		0.882 0.200 19 6709693 synonymous variant C/T snv 0.17 0.14
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs2277984
rs2277984 		0.925 0.120 19 6679500 splice region variant C/T snv 0.52 0.50
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs2277984
rs2277984 		0.925 0.120 19 6679500 splice region variant C/T snv 0.52 0.50
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2011 2011
dbSNP: rs2277984
rs2277984 		0.925 0.120 19 6679500 splice region variant C/T snv 0.52 0.50
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2011 2011
dbSNP: rs3745567
rs3745567 		19 6690760 intron variant C/T snv 0.11 0.11
CUI: C0577608
Disease: C4 complement assay (procedure)
C4 complement assay (procedure) 		0.700 1.000 1 2012 2012
dbSNP: rs3745567
rs3745567 		19 6690760 intron variant C/T snv 0.11 0.11
CUI: C2699419
Disease: Complement C3 Measurement
Complement C3 Measurement 		0.700 1.000 1 2012 2012
dbSNP: rs1568229677
rs1568229677 		1.000 0.080 19 6719308 frameshift variant CA/- delins
CUI: C3151071
Disease: COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE
COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases 0.700 0
dbSNP: rs121909584
rs121909584 		1.000 19 6693033 missense variant G/A snv
CUI: C2752037
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5 		0.800 1.000 4 2008 2010
dbSNP: rs771353792
rs771353792 		1.000 19 6709755 missense variant G/A snv 4.0E-06
CUI: C2752037
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5 		0.700 1.000 2 2008 2010
dbSNP: rs10411506
rs10411506 		0.925 0.160 19 6710937 non coding transcript exon variant G/A snv 0.17 0.14
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs10411506
rs10411506 		0.925 0.160 19 6710937 non coding transcript exon variant G/A snv 0.17 0.14
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.010 1.000 1 2009 2009
dbSNP: rs11569440
rs11569440 		19 6706285 intron variant G/A snv 4.4E-02
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs11569471
rs11569471 		19 6697579 non coding transcript exon variant G/A snv 1.1E-02 4.4E-02
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs11569536
rs11569536 		1.000 0.040 19 6686078 intron variant G/A snv 4.9E-02 6.1E-02
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.010 1.000 1 2015 2015
dbSNP: rs117793540
rs117793540 		0.925 0.040 19 6707118 missense variant G/A snv 2.2E-03 1.9E-03
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.010 1.000 1 2014 2014
dbSNP: rs445750
rs445750 		1.000 0.040 19 6701502 intron variant G/A snv 0.66
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2018 2018
dbSNP: rs451760
rs451760 		1.000 0.040 19 6703061 intron variant G/A snv 0.77
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2018 2018
dbSNP: rs794729228
rs794729228 		1.000 19 6714208 missense variant G/A snv
CUI: C2752037
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5 		0.700 1.000 1 2008 2008
dbSNP: rs7951
rs7951 		1.000 0.080 19 6681980 synonymous variant G/A snv 8.4E-02 8.5E-02
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs117793540
rs117793540 		0.925 0.040 19 6707118 missense variant G/A snv 2.2E-03 1.9E-03
CUI: C2752037
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5 		0.700 0
dbSNP: rs1047286
rs1047286 		0.925 0.160 19 6713251 missense variant G/A;C snv 0.14; 4.0E-06
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.050 0.800 5 2010 2015
dbSNP: rs1047286
rs1047286 		0.925 0.160 19 6713251 missense variant G/A;C snv 0.14; 4.0E-06
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 < 0.001 1 2010 2010
dbSNP: rs17030
rs17030 		0.925 0.080 19 6677978 synonymous variant G/A;C snv 0.52; 4.0E-06
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2004 2004
dbSNP: rs17030
rs17030 		0.925 0.080 19 6677978 synonymous variant G/A;C snv 0.52; 4.0E-06
CUI: C1504336
Disease: Polypoidal choroidal vasculopathy
Polypoidal choroidal vasculopathy 		0.010 1.000 1 2014 2014