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rs3750847

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs3750847(A;A)
Make rs3750847(A;G)
ReferenceGRCh38 38.1/142
Chromosome10
Position122455905
GeneARMS2
is asnp
is mentioned by
dbSNPrs3750847
ebirs3750847
HLIrs3750847
Exacrs3750847
Varsomers3750847
Maprs3750847
PheGenIrs3750847
hapmaprs3750847
1000 genomesrs3750847
hgdprs3750847
ensemblrs3750847
gopubmedrs3750847
geneviewrs3750847
scholarrs3750847
googlers3750847
pharmgkbrs3750847
gwascentralrs3750847
openSNPrs3750847
23andMers3750847
23andMe allrs3750847
SNP Nexus

SNPshotrs3750847
SNPdbers3750847
MSV3drs3750847
GWAS Ctlgrs3750847
GMAF0.2736
Max Magnitude0
? (A;A) (A;G) (G;G) 28
association with ARMD

[PMID 16936732] Common variation in three genes, including a noncoding variant in CFH, strongly influences risk of age-related macular degeneration.

[PMID 17000705] CFH, ELOVL4, PLEKHA1 and LOC387715 genes and susceptibility to age-related maculopathy: AREDS and CHS cohorts and meta-analyses.

[PMID 17884985OA-icon.png] A variant of mitochondrial protein LOC387715/ARMS2, not HTRA1, is strongly associated with age-related macular degeneration.

[PMID 16642439OA-icon.png] Cigarette smoking strongly modifies the association of LOC387715 and age-related macular degeneration.

[PMID 19801603OA-icon.png] Rapid inexpensive genome-wide association using pooled whole blood.

[PMID 20140183OA-icon.png] Genetic and functional dissection of HTRA1 and LOC387715 in age-related macular degeneration.

[PMID 21909106] Genome-wide association study identifies two susceptibility loci for exudative age-related macular degeneration in the Japanese population.


[PMID 25786237OA-icon.png] Lens Status Influences the Association between CFH Polymorphisms and Age-Related Macular Degeneration: Findings from Two Population-Based Studies in Singapore


ClinVar
Risk rs3750847(A;A)
Alt rs3750847(A;A)
Reference rs3750847(G;G)
Significance Untested
Disease not provided
Variation info
Gene ARMS2
CLNDBN not provided
Reversed 1
HGVS NC_000010.10:g.124215421C>T
CLNSRC
CLNACC RCV000190308.1,