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: rs11569441
rs11569441 		19 6705102 intron variant A/G snv 4.5E-02
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs11569562
rs11569562 		0.882 0.160 19 6678742 intron variant A/G snv 0.50
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2018 2018
dbSNP: rs11569562
rs11569562 		0.882 0.160 19 6678742 intron variant A/G snv 0.50
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs11569562
rs11569562 		0.882 0.160 19 6678742 intron variant A/G snv 0.50
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.010 1.000 1 2009 2009
dbSNP: rs775015499
rs775015499 		1.000 19 6685049 missense variant C/A;T snv 4.0E-06; 1.6E-05
CUI: C2752037
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5 		0.700 0
dbSNP: rs1310478538
rs1310478538 		0.851 0.080 19 6713295 missense variant C/G snv 1.4E-05
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		Cardiovascular Diseases 0.020 1.000 2 2002 2010
dbSNP: rs1310478538
rs1310478538 		0.851 0.080 19 6713295 missense variant C/G snv 1.4E-05
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.020 1.000 2 2002 2010
dbSNP: rs1310478538
rs1310478538 		0.851 0.080 19 6713295 missense variant C/G snv 1.4E-05
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.020 1.000 2 2002 2010
dbSNP: rs1310478538
rs1310478538 		0.851 0.080 19 6713295 missense variant C/G snv 1.4E-05
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2002 2002
dbSNP: rs344550
rs344550 		1.000 0.120 19 6682942 non coding transcript exon variant C/G snv 0.64
CUI: C1367654
Disease: Marginal Zone B-Cell Lymphoma
Marginal Zone B-Cell Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs3745565
rs3745565 		1.000 0.080 19 6690971 intron variant C/G snv 0.11
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2011 2011
dbSNP: rs163913
rs163913 		0.925 0.160 19 6722624 intron variant C/G;T snv
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: rs163913
rs163913 		0.925 0.160 19 6722624 intron variant C/G;T snv
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.010 1.000 1 2009 2009
dbSNP: rs2230201
rs2230201 		0.882 0.200 19 6713280 synonymous variant C/G;T snv 0.19
CUI: C1861453
Disease: Pseudohyperkalemia Cardiff
Pseudohyperkalemia Cardiff 		Nutritional and Metabolic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs2230201
rs2230201 		0.882 0.200 19 6713280 synonymous variant C/G;T snv 0.19
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: rs2230201
rs2230201 		0.882 0.200 19 6713280 synonymous variant C/G;T snv 0.19
CUI: C0524910
Disease: Hepatitis C, Chronic
Hepatitis C, Chronic 		Digestive System Diseases; Infections 0.010 1.000 1 2015 2015
dbSNP: rs121909583
rs121909583 		0.925 0.120 19 6709754 missense variant C/T 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: rs121909585
rs121909585 		0.925 0.120 19 6692971 missense variant C/T 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: rs121909583
rs121909583 		0.925 0.120 19 6709754 missense variant C/T snv
CUI: C2931788
Disease: Atypical Hemolytic Uremic Syndrome
Atypical Hemolytic Uremic Syndrome 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2009 2009
dbSNP: rs121909585
rs121909585 		0.925 0.120 19 6692971 missense variant C/T snv
CUI: C0018965
Disease: Hematuria
Hematuria 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2019 2019
dbSNP: rs121909585
rs121909585 		0.925 0.120 19 6692971 missense variant C/T snv
CUI: C2931788
Disease: Atypical Hemolytic Uremic Syndrome
Atypical Hemolytic Uremic Syndrome 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs121909585
rs121909585 		0.925 0.120 19 6692971 missense variant C/T snv
CUI: C2717961
Disease: Thrombotic Microangiopathies
Thrombotic Microangiopathies 		Hemic and Lymphatic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1449441916
rs1449441916 		1.000 0.080 19 6710680 missense variant C/T snv 4.0E-06
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 1.000 1 1994 1994
dbSNP: rs163494
rs163494 		19 6724329 intron variant C/T snv 0.21
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs2230205
rs2230205 		0.882 0.200 19 6709693 synonymous variant C/T snv 0.17 0.14
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2018 2018