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rs63750066

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 7 Early-onset Alzheimer's disease
(G;G) 0 common in clinvar


Make rs63750066(A;A)
ReferenceGRCh38 38.1/141
Chromosome21
Position25891796
GeneAPP
is asnp
is mentioned by
dbSNPrs63750066
dbSNP (old)rs63750066
ClinGenrs63750066
ebirs63750066
HLIrs63750066
Exacrs63750066
Gnomadrs63750066
Varsomers63750066
Maprs63750066
PheGenIrs63750066
Biobankrs63750066
1000 genomesrs63750066
hgdprs63750066
ensemblrs63750066
gopubmedrs63750066
geneviewrs63750066
scholarrs63750066
googlers63750066
pharmgkbrs63750066
gwascentralrs63750066
openSNPrs63750066
23andMers63750066
23andMe allrs63750066
SNP Nexus

SNPshotrs63750066
SNPdbers63750066
MSV3drs63750066
GWAS Ctlgrs63750066
GMAF0.0
Max Magnitude7

rs63750066, also known as c.2137G>A, p.Ala713Thr and A713T, represents a rare mutation in the APP gene.

Inherited dominantly, the rare minor allele is considered pathogenic for either early-onset Alzheimer's disease or cerebral amyloid angiopathy. More information can be found in ClinVar and in the AlzForum.

Reported in [PMID 28350801OA-icon.png] as a "definitely" pathogenic mutation for early-onset Alzheimer's disease.

OMIM104760
Desc
Variant0009
Relatedalso


ClinVar
Risk rs63750066(A;A)
Alt rs63750066(A;A)
Reference Rs63750066(G;G)
Significance Pathogenic
Disease Alzheimer disease not provided
Variation info
Gene APP
CLNDBN Alzheimer disease, type 1 not provided
Reversed 1
HGVS NC_000021.8:g.27264108C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000019721.27, RCV000084566.1,