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: rs111595742
rs111595742 		1.000 19 6678457 splice acceptor variant T/A;C snv
CUI: C1332655
Disease: Complement component 3 deficiency
Complement component 3 deficiency 		0.700 0
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: rs121909586
rs121909586 		1.000 19 6697673 stop gained G/A;C snv
CUI: C2752037
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5 		0.700 0
dbSNP: rs147859257
rs147859257 		0.827 0.040 19 6718135 missense variant T/G snv 2.8E-03 2.4E-03
CUI: C1969651
Disease: Macular Degeneration, Age-Related, 9
Macular Degeneration, Age-Related, 9 		Eye Diseases 0.700 0
dbSNP: rs147859257
rs147859257 		0.827 0.040 19 6718135 missense variant T/G snv 2.8E-03 2.4E-03
CUI: C4015971
Disease: MACULAR DEGENERATION, AGE-RELATED, 9, SUSCEPTIBILITY TO
MACULAR DEGENERATION, AGE-RELATED, 9, SUSCEPTIBILITY TO 		0.700 0
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: 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: 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: 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: 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: rs366510
rs366510 		1.000 0.080 19 6697818 intron variant G/A;C;T snv 4.2E-06; 2.5E-05; 0.67
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2006 2006
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: 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: 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: 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