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: rs2230199
rs2230199 		0.763 0.240 19 6718376 missense variant G/C;T snv 0.15
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.900 0.852 27 2009 2020
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: rs121909584
rs121909584 		1.000 19 6693033 missense variant G/A 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: 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: rs147859257
rs147859257 		0.827 0.040 19 6718135 missense variant T/G snv 2.8E-03 2.4E-03
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.720 1.000 3 2014 2018
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: rs771353792
rs771353792 		1.000 19 6709755 missense variant G/A snv 4.0E-06
CUI: C2752037
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5 		0.700 1.000 2 2008 2010
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
dbSNP: rs11569479
rs11569479 		19 6696783 intron variant T/C snv 0.11
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
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: rs147859257
rs147859257 		0.827 0.040 19 6718135 missense variant T/G snv 2.8E-03 2.4E-03
CUI: C0271084
Disease: Exudative age-related macular degeneration
Exudative age-related macular degeneration 		Eye Diseases 0.700 1.000 1 2016 2016
dbSNP: rs147859257
rs147859257 		0.827 0.040 19 6718135 missense variant T/G snv 2.8E-03 2.4E-03
CUI: C1536085
Disease: Geographic Atrophy
Geographic Atrophy 		Eye Diseases 0.700 1.000 1 2016 2016
dbSNP: rs147859257
rs147859257 		0.827 0.040 19 6718135 missense variant T/G snv 2.8E-03 2.4E-03
CUI: C2237660
Disease: exudative macular degeneration
exudative macular degeneration 		Eye Diseases 0.700 1.000 1 2016 2016
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: rs339394
rs339394 		19 6720617 5 prime UTR variant G/A;C snv 1.1E-03
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs3745567
rs3745567 		19 6690760 intron variant C/T snv 0.11 0.11
CUI: C0577608
Disease: C4 complement assay (procedure)
C4 complement assay (procedure) 		0.700 1.000 1 2012 2012
dbSNP: rs3745567
rs3745567 		19 6690760 intron variant C/T snv 0.11 0.11
CUI: C2699419
Disease: Complement C3 Measurement
Complement C3 Measurement 		0.700 1.000 1 2012 2012
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: rs8112351
rs8112351 		19 6706287 intron variant T/A;C snv
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
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