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rs63750110

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;C) 4 early-onset Alzheimer's disease? or just a benign variant?
Make rs63750110(C;C)
ReferenceGRCh38 38.1/141
Chromosome1
Position226895548
GenePSEN2
is asnp
is mentioned by
dbSNPrs63750110
ebirs63750110
HLIrs63750110
Exacrs63750110
Varsomers63750110
Maprs63750110
PheGenIrs63750110
hapmaprs63750110
1000 genomesrs63750110
hgdprs63750110
ensemblrs63750110
gopubmedrs63750110
geneviewrs63750110
scholarrs63750110
googlers63750110
pharmgkbrs63750110
gwascentralrs63750110
openSNPrs63750110
23andMers63750110
23andMe allrs63750110
SNP Nexus

SNPshotrs63750110
SNPdbers63750110
MSV3drs63750110
GWAS Ctlgrs63750110
Max Magnitude4

rs63750110, also known as D439A or Asp439Ala, represent a very rare variant in the presenilin 2 PSEN2 gene.

Inherited as an autosomal dominant, the rare rs63750110(C) allele was reported in 2001/2002 as causative for early-onset Alzheimer's disease; see [PMID 11723295].

More recent studies (in 2015 and 2016) are casting doubt on the penetrance of this mutation. One publication ([PMID 25104557OA-icon.png] feels that the D439A variant is likely to be a "rare, benign polymorphism", and another [PMID 25937274] sees it in a person not known to have Alzheimer's (however age at death was unknown).

Currently (2016), the AlzForum entry currently lists D439A as having "unclear pathogenicity" and ClinVar now lists this as having "uncertain significance", however, OMIM retains the "pathogenic" listing.

OMIM600759
Desc
Variant0003
Relatedalso


ClinVar
Risk rs63750110(C;C)
Alt rs63750110(C;C)
Reference rs63750110(A;A)
Significance Pathogenic
Disease Alzheimer disease not provided Alzheimer's disease
Variation info
Gene ADCK3 PSEN2
CLNDBN Alzheimer disease, type 4 not provided Alzheimer's disease
Reversed 0
HGVS NC_000001.10:g.227083249A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000009395.3, RCV000084269.1, RCV000172102.1,