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rs1064039

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 2 Higher risk for age-related macular degeneration; slightly higher Alzheimers risk in Caucasians but not Asians
(A;G) 1.2 slightly higher risk for Alzheimers in Caucasians but not Asians
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome20
Position23637790
GeneCST3
is asnp
is mentioned by
dbSNPrs1064039
ebirs1064039
HLIrs1064039
Exacrs1064039
Varsomers1064039
Maprs1064039
PheGenIrs1064039
hapmaprs1064039
1000 genomesrs1064039
hgdprs1064039
ensemblrs1064039
gopubmedrs1064039
geneviewrs1064039
scholarrs1064039
googlers1064039
pharmgkbrs1064039
gwascentralrs1064039
openSNPrs1064039
23andMers1064039
23andMe allrs1064039
SNP Nexus

SNPshotrs1064039
SNPdbers1064039
MSV3drs1064039
GWAS Ctlgrs1064039
GMAF0.1892
Max Magnitude2

rs1064039, also known as G73A, Ala25Thr or A25T, is a variant in the cystatin C CST3 gene.

A relatively small study (167 patients) concluded that rs1064039(A;A) genotypes had about a 3 fold increase in risk for exudative age-related macular degeneration (ARMD).[PMID 11815350OA-icon.png]

A meta-analysis of 2,410 cases and 2,539 controls reported that although the rs1064039(A) allele is associated with about a 1.5x increased odds ratio for developing Alzheimer's disease in Caucasians, no increased risk was seen in Asians.[PMID 22435454]

OMIM604312
Desc
Variant0002
Relatedalso


ClinVar
Risk rs1064039(A;A)
Alt rs1064039(A;A)
Reference rs1064039(G;G)
Significance Pathogenic
Disease Age-related macular degeneration 11
Variation info
Gene CST3
CLNDBN Age-related macular degeneration 11
Reversed 1
HGVS NC_000020.10:g.23618427C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005989.3,



[PMID 18830724OA-icon.png] Assessment of Alzheimer's disease case-control associations using family-based methods.


[PMID 22435454] Meta-Analysis of the Cystatin C(CST3) Gene G73A Polymorphism and Susceptibility to Alzheimer's Disease.


GET Evidence
CST3-A25T
aa_change Ala25Thr
aa_change_short A25T
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.170555
summary Associated with age-related macular degeneration and alzheimer's disease.