rs63750847

Alzheimer's related, 1% geno is good

minus

Geno	Mag	Summary
(A;A)	4	resistance to Alzheimer's disease
(A;G)	3.5	carrier for reduced risk of Alzheimer's disease
(G;G)	0	normal

Reference

GRCh38 38.1/141

Chromosome

21

Position

25897620

Gene

APP

is a	snp
is	mentioned by
dbSNP	rs63750847
dbSNP (classic)	rs63750847
ClinGen	rs63750847
ebi	rs63750847
HLI	rs63750847
Exac	rs63750847
Gnomad	rs63750847
Varsome	rs63750847
LitVar	rs63750847
Map	rs63750847
PheGenI	rs63750847
Biobank	rs63750847
1000 genomes	rs63750847
hgdp	rs63750847
ensembl	rs63750847
geneview	rs63750847
scholar	rs63750847
google	rs63750847
pharmgkb	rs63750847
gwascentral	rs63750847
openSNP	rs63750847
23andMe	rs63750847
SNPshot	rs63750847
SNPdbe	rs63750847
MSV3d	rs63750847
GWAS Ctlg	rs63750847

Max Magnitude

4

rs63750847, also known as c.2017G>A, p.Ala673Thr and A673T, represents an infrequent variant in the APP gene on chromosome 21. The minor allele has been reported to reduce risk for Alzheimer's disease.[PMID 22801501]

source Detected in 1 patient with 2 ischemic strokes and myocardial infarction. No family history; no amyloid deposition.

The variant also makes developing Alzheimer's disease four times less likely across all age groups. "It confers extraordinarily strong protection," said Stefansson. source

http://www.decodeyou.com/decode-genetics-discovers-mutation-conferring-protection-against-alzheimers-disease-and-cognitive-decline-in-elderly/

http://blog.personalgenomes.org/2012/08/01/the-predominant-variant-of-the-app-gene-greatly-increases-risk-for-alzheimers-disease-and-cognitive-decline/

ClinVar
Risk	Rs63750847(A;A)
Alt	Rs63750847(A;A)
Reference	Rs63750847(G;G)
Significance	Other
Disease	Alzheimer disease not provided
Variation	info
Gene	APP
CLNDBN	Alzheimer disease, protection against not provided
Reversed	1
HGVS	NC_000021.8:g.27269932C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000030774.2, RCV000084558.1,

[PMID 23510020 ] Have we learnt all we need to know from genetic studies - is genetics over in Alzheimer's disease?