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rs63750847

From SNPedia

Alzheimer's related, 1% geno is good
Orientationminus
Stabilizedminus
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
ReferenceGRCh38 38.1/141
Chromosome21
Position25897620
GeneAPP
is asnp
is mentioned by
dbSNPrs63750847
ClinGenrs63750847
ebirs63750847
HLIrs63750847
Exacrs63750847
Varsomers63750847
Maprs63750847
PheGenIrs63750847
hapmaprs63750847
1000 genomesrs63750847
hgdprs63750847
ensemblrs63750847
gopubmedrs63750847
geneviewrs63750847
scholarrs63750847
googlers63750847
pharmgkbrs63750847
gwascentralrs63750847
openSNPrs63750847
23andMers63750847
23andMe allrs63750847
SNP Nexus

SNPshotrs63750847
SNPdbers63750847
MSV3drs63750847
GWAS Ctlgrs63750847
Max Magnitude4

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 23510020OA-icon.png] Have we learnt all we need to know from genetic studies - is genetics over in Alzheimer's disease?