C2, complement C2, 717

N. diseases: 14; N. variants: 17
Source: GWASDB ×
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: rs9332739
rs9332739 		0.763 0.360 6 31936027 missense variant G/A;C snv 4.1E-06; 3.9E-02
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.860 1.000 2 2006 2018
dbSNP: rs558702
rs558702 		0.807 0.320 6 31902549 intron variant G/A snv 7.7E-02
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.800 1.000 1 2014 2014
dbSNP: rs9380272
rs9380272 		1.000 0.040 6 31938233 intron variant G/A snv
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.800 1.000 1 2010 2010
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: 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: 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: rs1042663
rs1042663 		0.925 0.160 6 31937353 synonymous variant G/A snv 9.7E-02 0.12
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.700 1.000 1 2012 2012
dbSNP: rs497239
rs497239 		1.000 0.120 6 31940984 intron variant T/C snv 0.12
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs497309
rs497309 		0.882 0.240 6 31924707 intron variant A/C;G snv
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs498240
rs498240 		1.000 0.120 6 31924815 intron variant G/A snv 7.5E-02
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs511294
rs511294 		1.000 0.120 6 31921092 intron variant T/G snv 7.4E-02
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs544167
rs544167 		0.925 0.160 6 31922381 intron variant T/G snv 7.3E-02
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.700 1.000 1 2013 2013
dbSNP: rs544167
rs544167 		0.925 0.160 6 31922381 intron variant T/G snv 7.3E-02
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs550605
rs550605 		0.925 0.160 6 31939370 intron variant T/C snv 9.7E-02 0.12
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.700 1.000 1 2012 2012
dbSNP: rs558702
rs558702 		0.807 0.320 6 31902549 intron variant G/A snv 7.7E-02
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.700 1.000 1 2007 2007
dbSNP: rs558702
rs558702 		0.807 0.320 6 31902549 intron variant G/A snv 7.7E-02
CUI: C0026896
Disease: Myasthenia Gravis
Myasthenia Gravis 		Neoplasms; Immune System Diseases; Nervous System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs558702
rs558702 		0.807 0.320 6 31902549 intron variant G/A snv 7.7E-02
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		Neoplasms 0.700 1.000 1 2009 2009
dbSNP: rs609061
rs609061 		1.000 0.120 6 31942385 intron variant G/A snv 0.12
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs621701
rs621701 		1.000 0.120 6 31935344 non coding transcript exon variant G/A snv 7.5E-02
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs644045
rs644045 		0.851 0.240 6 31916180 intron variant A/G snv 0.72
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs644045
rs644045 		0.851 0.240 6 31916180 intron variant A/G snv 0.72
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.700 1.000 1 2007 2007
dbSNP: rs659445
rs659445 		0.882 0.160 6 31896527 intron variant G/A;C snv 0.77 0.76
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.700 1.000 1 2014 2014