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rs63751039

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs63751039(A;G)
Make rs63751039(G;G)
ReferenceGRCh38 38.1/141
Chromosome21
Position25891855
GeneAPP
is asnp
is mentioned by
dbSNPrs63751039
ebirs63751039
HLIrs63751039
Exacrs63751039
Varsomers63751039
Maprs63751039
PheGenIrs63751039
hapmaprs63751039
1000 genomesrs63751039
hgdprs63751039
ensemblrs63751039
gopubmedrs63751039
geneviewrs63751039
scholarrs63751039
googlers63751039
pharmgkbrs63751039
gwascentralrs63751039
openSNPrs63751039
23andMers63751039
23andMe allrs63751039
SNP Nexus

SNPshotrs63751039
SNPdbers63751039
MSV3drs63751039
GWAS Ctlgrs63751039
Max Magnitude0
OMIM104760
Desc
Variant0013
Relatedalso
ClinVar
Risk rs63751039(G;G)
Alt rs63751039(G;G)
Reference rs63751039(A;A)
Significance Pathogenic
Disease Alzheimer disease Cerebral amyloid angiopathy Alzheimer's disease not provided
Variation info
Gene APP
CLNDBN Alzheimer disease, type 1 Cerebral amyloid angiopathy, APP-related Alzheimer's disease not provided
Reversed 1
HGVS NC_000021.8:g.27264167T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000019725.27, RCV000019726.27, RCV000020307.2, RCV000084563.1,


[PMID 1415269OA-icon.png] Linkage and mutational analysis of familial Alzheimer disease kindreds for the APP gene region.


[PMID 10821838] Substitutions at codon 22 of Alzheimer's abeta peptide induce diverse conformational changes and apoptotic effects in human cerebral endothelial cells.


[PMID 11528419] The 'Arctic' APP mutation (E693G) causes Alzheimer's disease by enhanced Abeta protofibril formation.


[PMID 15502844] Aggressive amyloidosis in mice expressing human amyloid peptides with the Arctic mutation.


[PMID 18413473OA-icon.png] Clinical and neuropathological features of the arctic APP gene mutation causing early-onset Alzheimer disease.