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rs200538373

From SNPedia

Alzheimer association
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;G) 2.8 ~2x higher risk for Alzheimer's disease
(G;G) 0 common/normal
ReferenceGRCh38.p2 38.2/144
Chromosome19
Position1061893
GeneABCA7
is asnp
is mentioned by
dbSNPrs200538373
ebirs200538373
HLIrs200538373
Exacrs200538373
Varsomers200538373
Maprs200538373
PheGenIrs200538373
hapmaprs200538373
1000 genomesrs200538373
hgdprs200538373
ensemblrs200538373
gopubmedrs200538373
geneviewrs200538373
scholarrs200538373
googlers200538373
pharmgkbrs200538373
gwascentralrs200538373
openSNPrs200538373
23andMers200538373
23andMe allrs200538373
SNP Nexus

SNPshotrs200538373
SNPdbers200538373
MSV3drs200538373
GWAS Ctlgrs200538373
Max Magnitude2.8
rs200538373, also known as c.5570+5G>C, is one of several loss-of-function ABCA7 mutations associated with Alzheimer's disease initially in Icelanders, and then replicated in other populations.[PMID 25807283]

Carriers of one rare rs200538373(C) allele are at roughly twice the risk for developing late-onset Alzheimer's disease compared to people having the most common genotype (G;G); the odds ratio is 1.91, p=3.8 × 10e−6.[PMID 25807283]