rs63749810

minus

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

Make rs63749810(A;A)

Reference

GRCh38 38.1/141

Chromosome

21

Position

25891853

Gene

APP

is a	snp
is	mentioned by
dbSNP	rs63749810
dbSNP (classic)	rs63749810
ClinGen	rs63749810
ebi	rs63749810
HLI	rs63749810
Exac	rs63749810
Gnomad	rs63749810
Varsome	rs63749810
LitVar	rs63749810
Map	rs63749810
PheGenI	rs63749810
Biobank	rs63749810
1000 genomes	rs63749810
hgdp	rs63749810
ensembl	rs63749810
geneview	rs63749810
scholar	rs63749810
google	rs63749810
pharmgkb	rs63749810
gwascentral	rs63749810
openSNP	rs63749810
23andMe	rs63749810
SNPshot	rs63749810
SNPdbe	rs63749810
MSV3d	rs63749810
GWAS Ctlg	rs63749810

Max Magnitude

7

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 28350801 ] 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,