Have questions? Visit https://www.reddit.com/r/SNPedia

rs908832

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 3.8x increased risk for early-onset Alzheimers
(A;G)
(G;G) 0 normal
ReferenceGRCh38 38.1/141
Chromosome9
Position137018032
GeneABCA2
is asnp
is mentioned by
dbSNPrs908832
ebirs908832
HLIrs908832
Exacrs908832
Varsomers908832
Maprs908832
PheGenIrs908832
hapmaprs908832
1000 genomesrs908832
hgdprs908832
ensemblrs908832
gopubmedrs908832
geneviewrs908832
scholarrs908832
googlers908832
pharmgkbrs908832
gwascentralrs908832
openSNPrs908832
23andMers908832
23andMe allrs908832
SNP Nexus

SNPshotrs908832
SNPdbers908832
MSV3drs908832
GWAS Ctlgrs908832
GMAF0.03765
Max Magnitude0
This SNP, a synonymous substitution in the ABCA2 gene, has been linked to early onset Alzheimer's disease with an odds ratio of 3.8 for disease development in carriers of the A allele (in dbSNP orientation) compared to controls (95% CI 2-7.3), based on a study of ~400 Caucasian patients. [PMID 15649702]

Subsequently, this association was replicated in a Western European population (n=291, p=0.008), but not in a second sample from Southern Europe. rs908832 was not polymorphic in a Japanese sample. Furthermore, rs908832 was not associated with either serum cholesterol levels or with the risk for coronary artery disease, but did seem to be related to cholesterol levels in the cerebrospinal fluid.[PMID 16752360]

OMIM104300
DescALZHEIMER DISEASE; AD
Variant
Relatedalso
OMIM600047
DescATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 2; ABCA2
Variant
Relatedalso


GET Evidence
ABCA2-M711T
aa_change Met711Thr
aa_change_short M711T
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency
summary