rs4146894

minus

Geno	Mag	Summary
(A;A)	2.1	9.1x risk for AMD, but replication is lacking
(A;G)		2.6x risk for AMD
(G;G)	0	average

Reference

GRCh38 38.1/142

Chromosome

10

Position

122395865

Gene

PLEKHA1

is a	snp
is	mentioned by
dbSNP	rs4146894
dbSNP (classic)	rs4146894
ClinGen	rs4146894
ebi	rs4146894
HLI	rs4146894
Exac	rs4146894
Gnomad	rs4146894
Varsome	rs4146894
LitVar	rs4146894
Map	rs4146894
PheGenI	rs4146894
Biobank	rs4146894
1000 genomes	rs4146894
hgdp	rs4146894
ensembl	rs4146894
geneview	rs4146894
scholar	rs4146894
google	rs4146894
pharmgkb	rs4146894
gwascentral	rs4146894
openSNP	rs4146894
23andMe	rs4146894
SNPshot	rs4146894
SNPdbe	rs4146894
MSV3d	rs4146894
GWAS Ctlg	rs4146894

GMAF

0.4991

Max Magnitude

2.1

?

(A;A) (A;G) (G;G)

28

rs4146894, a SNP in the PLEKHA1 gene, is associated with increased risk for age related macular degeneration based on a study of 118 Caucasians. The odds ratio for risk of AMD was 9.1 (CI: 4.0-20.9, p=0.0001) for the AA genotype and 2.6 (CI: 1.3-5.5, p=0.04) for the AG genotype. The risk is increased further by the status of two other chromosome 10 SNPs, rs10490924 and rs11200638. [PMID 18079691]

[PMID 16080115 ] Susceptibility genes for age-related maculopathy on chromosome 10q26.

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

[PMID 23098369] ARMS2 increases the risk of early and late age-related macular degeneration in the European Eye Study