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rs28357980

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 normal
(A;G) 2x increased risk for age-related macular degeneration
(G;G) 2x risk of age related macular degeneration
ReferenceGRCh38 38.1/141
ChromosomeMT
Position4917
GeneMT-CO1
is asnp
is mentioned by
dbSNPrs28357980
ebirs28357980
HLIrs28357980
Exacrs28357980
Varsomers28357980
Maprs28357980
PheGenIrs28357980
hapmaprs28357980
1000 genomesrs28357980
hgdprs28357980
ensemblrs28357980
gopubmedrs28357980
geneviewrs28357980
scholarrs28357980
googlers28357980
pharmgkbrs28357980
gwascentralrs28357980
openSNPrs28357980
23andMers28357980
23andMe allrs28357980
SNP Nexus

SNPshotrs28357980
SNPdbers28357980
MSV3drs28357980
GWAS Ctlgrs28357980
GMAF0.03461
Max Magnitude0
? (A;A) (A;G) (G;G) 28
Also known as mitochondrial SNP 4917G.

PLoS This SNP predicts the presence of age related macular degeneration (odds ratio = 2.16, CI: 1.20-3.91, p = 0.01).

ThinkGene coverage


ClinVar
Risk rs28357980(G;G)
Alt rs28357980(G;G)
Reference rs28357980(A;A)
Significance Unknown
Disease Leber's optic atrophy
Variation info
Gene ND2
CLNDBN Leber's optic atrophy
Reversed 0
HGVS NC_012920.1:m.4917A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000010364.1,