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rs63749884

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 8 early-onset Alzheimer's disease; penetrance not 100%
(G;G) 0 common in clinvar


Make rs63749884(A;A)
ReferenceGRCh38 38.1/141
Chromosome1
Position226888979
GenePSEN2
is asnp
is mentioned by
dbSNPrs63749884
ebirs63749884
HLIrs63749884
Exacrs63749884
Varsomers63749884
Maprs63749884
PheGenIrs63749884
hapmaprs63749884
1000 genomesrs63749884
hgdprs63749884
ensemblrs63749884
gopubmedrs63749884
geneviewrs63749884
scholarrs63749884
googlers63749884
pharmgkbrs63749884
gwascentralrs63749884
openSNPrs63749884
23andMers63749884
23andMe allrs63749884
SNP Nexus

SNPshotrs63749884
SNPdbers63749884
MSV3drs63749884
GWAS Ctlgrs63749884
Max Magnitude8

rs63749884, also known as M239I or Met239Ile, is a SNP in the presenilin 2 PSEN2 gene.

Inherited as an autosomal dominant, the rare rs63749884(A) allele is considered causative for early-onset Alzheimer's disease; see [PMID 10631141OA-icon.png]. However, only three of the five individuals in the family studied who carried this mutation developed Alzheimer's; the other two did not. The penetrance of this mutation is therefore clearly not 100%, for reasons that are unknown.

OMIM600759
Desc
Variant0006
Relatedalso


ClinVar
Risk rs63749884(A;A)
Alt rs63749884(A;A)
Reference rs63749884(G;G)
Significance Pathogenic
Disease Alzheimer disease not provided
Variation info
Gene PSEN2
CLNDBN Alzheimer disease, type 4 not provided
Reversed 0
HGVS NC_000001.10:g.227076680G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000009398.4, RCV000084266.1,



[PMID 7651536] Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene.


[PMID 15055444] Neuropathological and clinical phenotype of an Italian Alzheimer family with M239V mutation of presenilin 2 gene.