C3, complement C3, 718

N. diseases: 343; N. variants: 49
Disease: Age related macular degeneration ×
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: 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: 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: rs2250656
rs2250656 		0.882 0.160 19 6718523 intron variant T/C snv 0.25
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.020 0.500 2 2009 2015
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: rs11569536
rs11569536 		1.000 0.040 19 6686078 intron variant G/A snv 4.9E-02 6.1E-02
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.010 1.000 1 2015 2015
dbSNP: rs117793540
rs117793540 		0.925 0.040 19 6707118 missense variant G/A snv 2.2E-03 1.9E-03
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.010 1.000 1 2014 2014
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: rs2230210
rs2230210 		1.000 0.040 19 6678019 missense variant T/C;G snv 1.2E-03
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.010 1.000 1 2014 2014
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: rs539992721
rs539992721 		0.925 0.160 19 6719285 missense variant T/C;G snv 4.0E-06; 4.8E-05
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.010 1.000 1 2014 2014