C2, complement C2, 717

N. diseases: 71; N. variants: 39
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: rs138195505
rs138195505 		0.925 0.040 6 31933645 missense variant G/A;T snv 2.0E-05; 1.6E-05
CUI: C1504336
Disease: Polypoidal choroidal vasculopathy
Polypoidal choroidal vasculopathy 		0.010 1.000 1 2012 2012
dbSNP: rs497309
rs497309 		0.882 0.240 6 31924707 intron variant A/C;G snv
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: rs757537938
rs757537938 		0.882 0.200 6 31943672 missense variant A/C snv 4.1E-06
CUI: C0151517
Disease: Complete atrioventricular block
Complete atrioventricular block 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs757537938
rs757537938 		0.882 0.200 6 31943672 missense variant A/C snv 4.1E-06
CUI: C1701940
Disease: Pneumonia, Ventilator-Associated
Pneumonia, Ventilator-Associated 		Pathological Conditions, Signs and Symptoms; Infections; Respiratory Tract Diseases 0.010 1.000 1 2009 2009
dbSNP: rs9267673
rs9267673 		0.925 0.080 6 31915902 intron variant C/A;T snv 0.12
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs9332739
rs9332739 		0.763 0.360 6 31936027 missense variant G/A;C snv 4.1E-06; 3.9E-02
CUI: C1701940
Disease: Pneumonia, Ventilator-Associated
Pneumonia, Ventilator-Associated 		Pathological Conditions, Signs and Symptoms; Infections; Respiratory Tract Diseases 0.010 1.000 1 2009 2009
dbSNP: rs9332739
rs9332739 		0.763 0.360 6 31936027 missense variant G/A;C snv 4.1E-06; 3.9E-02
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 2012 2012
dbSNP: rs9332739
rs9332739 		0.763 0.360 6 31936027 missense variant G/A;C snv 4.1E-06; 3.9E-02
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2013 2013
dbSNP: rs9332739
rs9332739 		0.763 0.360 6 31936027 missense variant G/A;C snv 4.1E-06; 3.9E-02
CUI: C1504336
Disease: Polypoidal choroidal vasculopathy
Polypoidal choroidal vasculopathy 		0.010 1.000 1 2009 2009
dbSNP: rs9332739
rs9332739 		0.763 0.360 6 31936027 missense variant G/A;C snv 4.1E-06; 3.9E-02
CUI: C0151517
Disease: Complete atrioventricular block
Complete atrioventricular block 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs138195505
rs138195505 		0.925 0.040 6 31933645 missense variant G/A;T snv 2.0E-05; 1.6E-05
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.020 1.000 2 2007 2012
dbSNP: rs547154
rs547154 		0.882 0.160 6 31943161 intron variant G/T snv 0.12
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 0.020 1.000 2 2012 2013
dbSNP: rs757537938
rs757537938 		0.882 0.200 6 31943672 missense variant A/C snv 4.1E-06
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.030 1.000 3 2006 2009
dbSNP: rs1467528955
rs1467528955 		1.000 0.040 6 31933767 missense variant G/A snv 1.2E-05 7.0E-06
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.040 1.000 4 2006 2010
dbSNP: rs547154
rs547154 		0.882 0.160 6 31943161 intron variant G/T snv 0.12
CUI: C1504336
Disease: Polypoidal choroidal vasculopathy
Polypoidal choroidal vasculopathy 		0.050 1.000 5 2009 2015
dbSNP: rs547154
rs547154 		0.882 0.160 6 31943161 intron variant G/T snv 0.12
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.100 1.000 14 2007 2018
dbSNP: rs1042663
rs1042663 		0.925 0.160 6 31937353 synonymous variant G/A snv 9.7E-02 0.12
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 3 2007 2011
dbSNP: rs2734335
rs2734335 		1.000 0.120 6 31926167 intron variant G/A snv 0.53
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 3 2007 2011
dbSNP: rs550605
rs550605 		0.925 0.160 6 31939370 intron variant T/C snv 9.7E-02 0.12
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 3 2007 2011
dbSNP: rs659445
rs659445 		0.882 0.160 6 31896527 intron variant G/A;C snv 0.77 0.76
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 3 2007 2011
dbSNP: rs151340617
rs151340617 		1.000 6 31943254 missense variant G/A snv 8.1E-06 1.4E-05
CUI: C3150275
Disease: COMPLEMENT COMPONENT 2 DEFICIENCY
COMPLEMENT COMPONENT 2 DEFICIENCY 		0.700 1.000 2 1996 1998
dbSNP: rs28934590
rs28934590 		1.000 6 31933876 missense variant C/G;T snv 4.0E-06; 4.0E-06
CUI: C3150275
Disease: COMPLEMENT COMPONENT 2 DEFICIENCY
COMPLEMENT COMPONENT 2 DEFICIENCY 		0.700 1.000 2 1996 1998
dbSNP: rs558702
rs558702 		0.807 0.320 6 31902549 intron variant G/A snv 7.7E-02
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 2 2007 2011
dbSNP: rs558702
rs558702 		0.807 0.320 6 31902549 intron variant G/A snv 7.7E-02
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.700 1.000 2 2008 2012
dbSNP: rs685031
rs685031 		1.000 0.040 6 31913954 intron variant G/A;T snv
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.700 1.000 2 2018 2018