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: 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: 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: 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: 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: 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: rs2250656
rs2250656 		0.882 0.160 19 6718523 intron variant T/C snv 0.25
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: rs2250656
rs2250656 		0.882 0.160 19 6718523 intron variant T/C snv 0.25
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.010 1.000 1 2009 2009
dbSNP: rs2250656
rs2250656 		0.882 0.160 19 6718523 intron variant T/C snv 0.25
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		Nutritional and Metabolic Diseases 0.010 1.000 1 2009 2009
dbSNP: rs339392
rs339392 		0.925 0.160 19 6722011 intron variant G/T snv 0.79
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: rs339392
rs339392 		0.925 0.160 19 6722011 intron variant G/T snv 0.79
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.010 1.000 1 2009 2009
dbSNP: rs3745568
rs3745568 		1.000 0.080 19 6690602 intron variant T/G snv 8.9E-02 7.9E-02
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.010 1.000 1 2009 2009
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: 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: 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: rs2230199
rs2230199 		0.763 0.240 19 6718376 missense variant G/C;T snv 0.15
CUI: C1536085
Disease: Geographic Atrophy
Geographic Atrophy 		Eye Diseases 0.720 1.000 4 2012 2016
dbSNP: rs2230199
rs2230199 		0.763 0.240 19 6718376 missense variant G/C;T snv 0.15
CUI: C0271084
Disease: Exudative age-related macular degeneration
Exudative age-related macular degeneration 		Eye Diseases 0.700 1.000 2 2012 2016
dbSNP: rs2230199
rs2230199 		0.763 0.240 19 6718376 missense variant G/C;T snv 0.15
CUI: C2237660
Disease: exudative macular degeneration
exudative macular degeneration 		Eye Diseases 0.700 1.000 2 2012 2016
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: 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: 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