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rs63750445

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs63750445(G;T)
Make rs63750445(T;T)
ReferenceGRCh37 37.1/132
Chromosome21
Position27269939
GeneAPP
is asnp
is mentioned by
dbSNPrs63750445
ebirs63750445
HLIrs63750445
Exacrs63750445
Varsomers63750445
Maprs63750445
PheGenIrs63750445
hapmaprs63750445
1000 genomesrs63750445
hgdprs63750445
ensemblrs63750445
gopubmedrs63750445
geneviewrs63750445
scholarrs63750445
googlers63750445
pharmgkbrs63750445
gwascentralrs63750445
openSNPrs63750445
23andMers63750445
23andMe allrs63750445
SNP Nexus

SNPshotrs63750445
SNPdbers63750445
MSV3drs63750445
GWAS Ctlgrs63750445
StatusDeleted
Max Magnitude0
OMIM104760
Desc
Variant0008
Relatedalso
ClinVar
Risk rs63750445(T;T)
Alt rs63750445(T;T)
Reference rs63750445(G;G)
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.27269939C>A
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.