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rs199768005

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;T) 2.1 Marked reduced risk of Alzheimer's Disease
(T;T) 0 common in clinvar


Make rs199768005(A;A)
ReferenceGRCh38 38.1/141
Chromosome19
Position44909057
GeneAPOE
is asnp
is mentioned by
dbSNPrs199768005
ebirs199768005
HLIrs199768005
Exacrs199768005
Varsomers199768005
Maprs199768005
PheGenIrs199768005
hapmaprs199768005
1000 genomesrs199768005
hgdprs199768005
ensemblrs199768005
gopubmedrs199768005
geneviewrs199768005
scholarrs199768005
googlers199768005
pharmgkbrs199768005
gwascentralrs199768005
openSNPrs199768005
23andMers199768005
23andMe allrs199768005
SNP Nexus

SNPshotrs199768005
SNPdbers199768005
MSV3drs199768005
GWAS Ctlgrs199768005
Max Magnitude2.1
ClinVar
Risk rs199768005(A;A)
Alt rs199768005(A;A)
Reference rs199768005(T;T)
Significance Pathogenic
Disease Familial type 3 hyperlipoproteinemia
Variation info
Gene APOE
CLNDBN Familial type 3 hyperlipoproteinemia
Reversed 0
HGVS NC_000019.9:g.45412314T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000019454.28,



The minor allele of rs199768005 (A)(p.V236E, T/C sic) is a rare mutation (0.12%) in the APOE gene. It is one of only two protein APOE variants with MAF>0.1% in the Exome Variant Server (EVS, http://evs.gs.washington.edu/EVS/),

A study found that carriers of this rare mutation had a markedly reduced risk for AD (OR=0.10, 0.03-0.45). Only 2 of 25 heterozygotes had AD versus 23 controls (4128 LOAD, and 4986 controls). The minor allele of rs199768005 is in phase with the APOE epsilon 3 allele. p.V236E divides the epsilon 3 haplotype into epsilon 3b (the minor allele of rs199768005) and epsilon 3a (major allele of rs199768005). The risk of AD among those with epsilon 3b genotype was substantially reduced(OR=0.11,0.02-0.36, P=2.32x10-3). This decrease in AD risk was AD independent of the epsilon 2, 3 and 4 alleles. If confirmed, this rare genotype might reduce risk of AD more than the well-known epsilon 2 genotype. [PMID 24607147OA-icon.png]

Within the context of AD, the minor allele of rs199768005 appears to reduce disease risk. However, it is cited on this page and dbsnp as pathogenic in the context of Familial type 3 hyperlipoproteinemia.