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rs63749810

From SNPedia

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


Make rs63749810(A;A)
ReferenceGRCh38 38.1/141
Chromosome21
Position25891853
GeneAPP
is asnp
is mentioned by
dbSNPrs63749810
dbSNP (old)rs63749810
ClinGenrs63749810
ebirs63749810
HLIrs63749810
Exacrs63749810
Gnomadrs63749810
Varsomers63749810
Maprs63749810
PheGenIrs63749810
Biobankrs63749810
1000 genomesrs63749810
hgdprs63749810
ensemblrs63749810
gopubmedrs63749810
geneviewrs63749810
scholarrs63749810
googlers63749810
pharmgkbrs63749810
gwascentralrs63749810
openSNPrs63749810
23andMers63749810
23andMe allrs63749810
SNP Nexus

SNPshotrs63749810
SNPdbers63749810
MSV3drs63749810
GWAS Ctlgrs63749810
Max Magnitude7

rs63749810, also known as c.2080G>A, p.Asp694Asn and D694N, represents a rare mutation in the APP gene.

Known originally as the "Iowa" mutation, and 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.


ClinVar
Risk rs63749810(A;A)
Alt rs63749810(A;A)
Reference Rs63749810(G;G)
Significance Pathogenic
Disease Cerebral amyloid angiopathy not provided
Variation info
Gene APP
CLNDBN Cerebral amyloid angiopathy, APP-related not provided
Reversed 1
HGVS NC_000021.8:g.27264165C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000019729.27, RCV000084564.1,