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rs63751263

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs63751263(A;C)
Make rs63751263(C;C)
ReferenceGRCh37 37.1/132
Chromosome21
Position27269938
GeneAPP
is asnp
is mentioned by
dbSNPrs63751263
ebirs63751263
HLIrs63751263
Exacrs63751263
Varsomers63751263
Maprs63751263
PheGenIrs63751263
hapmaprs63751263
1000 genomesrs63751263
hgdprs63751263
ensemblrs63751263
gopubmedrs63751263
geneviewrs63751263
scholarrs63751263
googlers63751263
pharmgkbrs63751263
gwascentralrs63751263
openSNPrs63751263
23andMers63751263
23andMe allrs63751263
SNP Nexus

SNPshotrs63751263
SNPdbers63751263
MSV3drs63751263
GWAS Ctlgrs63751263
StatusDeleted
Max Magnitude0
OMIM104760
Desc
Variant0008
Relatedalso
ClinVar
Risk rs63751263(C;C)
Alt rs63751263(C;C)
Reference rs63751263(A;A)
Significance Pathogenic
Disease Alzheimer disease Alzheimer's disease
Variation info
Gene APP
CLNDBN Alzheimer disease, type 1 Alzheimer's disease
Reversed 1
HGVS NC_000021.8:g.27269938T>G
CLNSRC OMIM Allelic Variant GeneReviews
CLNACC SCV000040018.1, SCV000040680.1,


[PMID 88] The oxygen affinity of haemoglobin Tak, a variant with an elongated beta chain.


[PMID 1302033] A pathogenic mutation for probable Alzheimer's disease in the APP gene at the N-terminus of beta-amyloid.


[PMID 1465129] Mutation of the beta-amyloid precursor protein in familial Alzheimer's disease increases beta-protein production.


[PMID 7489411] The Swedish mutation causes early-onset Alzheimer's disease by beta-secretase cleavage within the secretory pathway.


[PMID 8012386] Altered cleavage and secretion of a recombinant beta-APP bearing the Swedish familial Alzheimer's disease mutation.


[PMID 9371838OA-icon.png] Two amyloid precursor protein transgenic mouse models with Alzheimer disease-like pathology.


[PMID 9796810] Neuron loss in APP transgenic mice.