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Rs2511989

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 2.2 0.44x decreased age-related macular degeneration risk
(A;G) 2.1 0.63x decreased age-related macular degeneration risk
(G;G) 0 normal
ReferenceGRCh38 38.1/141
Chromosome11
Position57610852
GeneSERPING1
is asnp
is mentioned by
dbSNPrs2511989
ebirs2511989
Exacrs2511989
PheGenIrs2511989
hapmaprs2511989
1000 genomesrs2511989
hgdprs2511989
ensemblrs2511989
gopubmedrs2511989
geneviewrs2511989
scholarrs2511989
googlers2511989
pharmgkbrs2511989
gwascentralrs2511989
openSNPrs2511989
23andMers2511989
23andMe allrs2511989
SNP Nexus

SNPshotrs2511989
SNPdbers2511989
MSV3drs2511989
GWAS Ctlgrs2511989
GMAF0.3228
Max Magnitude2.2
? (A;A) (A;G) (G;G) 28
[PMID 18842294] news

[PMID 19169411OA-icon.png] rs2511989 not associated with AMD

rs2511989(A;A) had a protective effect against age related macular degeneration.

Comparison of the rs2511989(A;G) genotype and the wild type (G;G) genotype yielded an odds ratio of 0.63 (CI: 0.47 to 0.84) for age-related macular degeneration.

Comparison of rs2511989(A;A) homozygotes with (G;G) homozygotes resulted in an odds ratio of 0.44 (CI: 0.31 to 0.64).


[PMID 19607829OA-icon.png] Localization of Complement 1 Inhibitor (C1INH/SERPING1) in Human Eyes with Age-Related Macular Degeneration



[PMID 20161815OA-icon.png] SERPING1 polymorphisms in polypoidal choroidal vasculopathy


[PMID 20062564OA-icon.png] An association study of SERPING1 gene and age-related macular degeneration in a Han Chinese population


[PMID 20576771] Determination of a gene and environment risk model for age-related macular degeneration

[PMID 20606025OA-icon.png] The effect of genetic variants in SERPING1 on the risk of neovascular age-related macular degeneration



[PMID 19026761OA-icon.png] Molecular pathology of age-related macular degeneration.


[PMID 21609242] Age-related macular degeneration-susceptibility single nucleotide polymorphisms in a han chinese control population.


GET Evidence
rs2511989
aa_change
aa_change_short
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.4375
summary



[PMID 25800435OA-icon.png] Ethnic differences in the association of SERPING1 with age-related macular degeneration and polypoidal choroidal vasculopathy