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rs1047286

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 1.3 1.3x increased risk for age-related macular degeneration
(T;T) 1.7 1.7x increased risk for age-related macular degeneration
ReferenceGRCh38 38.1/141
Chromosome19
Position6713251
GeneC3
is asnp
is mentioned by
dbSNPrs1047286
ebirs1047286
HLIrs1047286
Exacrs1047286
Varsomers1047286
Maprs1047286
PheGenIrs1047286
hapmaprs1047286
1000 genomesrs1047286
hgdprs1047286
ensemblrs1047286
gopubmedrs1047286
geneviewrs1047286
scholarrs1047286
googlers1047286
pharmgkbrs1047286
gwascentralrs1047286
openSNPrs1047286
23andMers1047286
23andMe allrs1047286
SNP Nexus

SNPshotrs1047286
SNPdbers1047286
MSV3drs1047286
GWAS Ctlgrs1047286
GMAF0.08586
Max Magnitude1.7
rs1047286 is a SNP in the complement component C3 gene.

A 2011 meta-analysis of seven studies concluded that, at least for Caucasians, the rs1047286(C;T) and (T;T) genotypes had 1.27 (CI: 1.15 - 1.41) and 1.70 (CI: 1.27 - 2.11) times higher risk of ARMD than did (G;G) genotypes. [PMID 21576320]

OMIM120700
DescC3 POLYMORPHISM, HAV 4-1 PLUS/MINUS TYPE
Variant0002
Relatedalso
Neighborrs2230199
Distance5125
Neighborrs2230201
Distance29


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


ClinVar
Risk rs1047286(T;T)
Alt rs1047286(T;T)
Reference rs1047286(C;C)
Significance Non-pathogenic
Disease C3 POLYMORPHISM
Variation info
Gene C3
CLNDBN C3 POLYMORPHISM, HAV 4-1 PLUS/MINUS TYPE
Reversed 1
HGVS NC_000019.9:g.6713262G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018586.2,



[PMID 19828715] Complement component 3 polymorphisms interact with polyunsaturated fatty acids to modulate risk of metabolic syndrome.


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


[PMID 20664795OA-icon.png] R102G polymorphism of the C3 gene associated with exudative age-related macular degeneration in a French population.


[PMID 22273503] Association of polymorphisms in C2, CFB and C3 with exudative age-related macular degeneration in a Korean population.


GET Evidence
C3-P314L
aa_change Pro314Leu
aa_change_short P314L
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.145566
summary



[PMID 23582991] Genetic Influences on the Outcome of Anti-Vascular Endothelial Growth Factor Treatment in Neovascular Age-related Macular Degeneration


[PMID 23068452] Common polymorphisms in the complement system and susceptiblity to bacterial meningitis.


[PMID 25688879] Nonsynonymous single nucleotide polymorphisms in the complement component 3 gene are associated with risk of age-related macular degeneration: a meta-analysis


[PMID 26305563] A Preliminary Genetic Analysis of Complement 3 Gene and Schizophrenia.