rs63750110

plus

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)

Reference

GRCh38 38.1/141

Chromosome

1

Position

226895548

Gene

PSEN2

is a	snp
is	mentioned by
dbSNP	rs63750110
dbSNP (classic)	rs63750110
ClinGen	rs63750110
ebi	rs63750110
HLI	rs63750110
Exac	rs63750110
Gnomad	rs63750110
Varsome	rs63750110
LitVar	rs63750110
Map	rs63750110
PheGenI	rs63750110
Biobank	rs63750110
1000 genomes	rs63750110
hgdp	rs63750110
ensembl	rs63750110
geneview	rs63750110
scholar	rs63750110
google	rs63750110
pharmgkb	rs63750110
gwascentral	rs63750110
openSNP	rs63750110
23andMe	rs63750110
SNPshot	rs63750110
SNPdbe	rs63750110
MSV3d	rs63750110
GWAS Ctlg	rs63750110

Max Magnitude

4

rs63750110, also known as c.1316A>C, 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 25104557 ] 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.

OMIM	600759
Desc
Variant	0003
Related	also

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	RCV000009395.4, RCV000084269.1, RCV000172102.1,