C3, complement C3, 718

N. diseases: 343; N. variants: 49
Disease: Age related macular degeneration ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1047286
rs1047286
Entrez Id: 718
Gene Symbol: C3
C3
CUI: C0242383
Disease:
Age related macular degeneration 		0.050 GeneticVariation BEFREE Significantly positive associations were found for the rs2230199 C/G SNP and AMD in the Caucasian population, as well as for the rs1047286 C/T SNP. 25688879 2015
dbSNP: rs1047286
rs1047286
Entrez Id: 718
Gene Symbol: C3
C3
CUI: C0242383
Disease:
Age related macular degeneration 		0.050 GeneticVariation BEFREE The risk alleles in C3 (rs1047286, odds ratio [OR]=2.48, 95% confidence interval [CI]=1.64-3.75, p=1.59E-05; rs2230199, OR=2.15, 95% CI=1.48-3.13, p=6.28E-05) and in ARMS2 (rs10490924, OR=3.09, 95% CI=2.48-3.86, p=5.42E-23) were strongly associated with risk of AMD. 24453474 2014
dbSNP: rs1047286
rs1047286
Entrez Id: 718
Gene Symbol: C3
C3
CUI: C0242383
Disease:
Age related macular degeneration 		0.050 GeneticVariation BEFREE Seventeen single nucleotide polymorphisms (SNPs) in known AMD risk-associated genes including CFH (rs800292, rs3766404, rs1061170, rs2274700 and rs393955), HTRA1 (rs11200638), CFHR1-5 (rs10922153, rs16840639, rs6667243, and rs1853883), LOC387715/ARMS2 (rs3793917 and rs10490924), C3 (rs2230199 and rs1047286), C2 (rs547154), CFB (rs641153) and F13B (rs6003) were examined. 23582991 2013
dbSNP: rs1047286
rs1047286
Entrez Id: 718
Gene Symbol: C3
C3
CUI: C0242383
Disease:
Age related macular degeneration 		0.050 GeneticVariation BEFREE For rs1047286, GA and AA genotypes had 1.27 (95% CI: 1.15, 1.41) and 1.70 (95% CI: 1.27, 2.11) times higher risk of AMD than did GG genotypes. 21576320 2011
dbSNP: rs1047286
rs1047286
Entrez Id: 718
Gene Symbol: C3
C3
CUI: C0242383
Disease:
Age related macular degeneration 		0.050 GeneticVariation BEFREE In contrast, the C3 variants rs2230199 and rs1047286 were not associated with exudative AMD in the studied subjects. 19850835 2010