rs63749884

plus

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

Make rs63749884(A;A)

Reference

GRCh38 38.1/141

Chromosome

1

Position

226888979

Gene

PSEN2

is a	snp
is	mentioned by
dbSNP	rs63749884
dbSNP (classic)	rs63749884
ClinGen	rs63749884
ebi	rs63749884
HLI	rs63749884
Exac	rs63749884
Gnomad	rs63749884
Varsome	rs63749884
LitVar	rs63749884
Map	rs63749884
PheGenI	rs63749884
Biobank	rs63749884
1000 genomes	rs63749884
hgdp	rs63749884
ensembl	rs63749884
geneview	rs63749884
scholar	rs63749884
google	rs63749884
pharmgkb	rs63749884
gwascentral	rs63749884
openSNP	rs63749884
23andMe	rs63749884
SNPshot	rs63749884
SNPdbe	rs63749884
MSV3d	rs63749884
GWAS Ctlg	rs63749884

Max Magnitude

8

rs63749884, also known as c.717G>A, 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 10631141 ]. 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.

OMIM	600759
Desc
Variant	0006
Related	also

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 UniProtKB (protein)
CLNACC	RCV000009398.5, 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.