Rs2230199

From SNPedia

rs2230199, a SNP in the complement component C3 gene, has been reported by several investigators to be associated with ARMD. The common allele at this SNP is known as Arg102; the variant and risk allele is known as Gly102. The risk allele, in orientation to the dbSNP entry for this rs#, is (G).

In one of the largest case-control studies, the odds ratio associated with heterozygotes is 1.61, and for homozygotes, 3.26 (p = 4.5 x 10e-12). 10.1038/ng2131

NEJM reports significant associate with ARMD.

blog post

Venter snp
Source	plos
Gene	C3
allele	C
frequency
sift	TOLERATED
HuRef	1103691081610
Disease Association	Defects in C3 are the cause of C3 deficiency (MIM:120700). It can result in susceptibility to pyogenic infection.

[PMID 19399715] Impact of interacting functional variants in COMT on regional gray matter volume in human brain

[PMID 19234341] Complement component 3 (C3) haplotypes and risk of advanced age-related macular degeneration

[PMID 19797206] Susceptibility genes and progression in age-related maculopathy - a study of single eyes. The prospective Muenster Ageing and Retina Study (MARS)

[PMID 19850835] The noncoding variant in complement factor H gene increases risk of exudative age-related macular degeneration in a Chinese population

[PMID 19899988] Association of c3 gene polymorphisms with neovascular age-related macular degeneration in a chinese population

[PMID 20157618] Complement Component 3: an assessment of association with AMD and analysis of gene-gene and gene-environment interactions in a Northern Irish cohort