rs63750066

Orientation

minus

Stabilized

minus

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

Make rs63750066(A;A)

Reference

GRCh38 38.1/141

Chromosome

21

Position

25891796

Gene

APP

is a	snp
is	mentioned by
dbSNP	rs63750066
dbSNP (classic)	rs63750066
ClinGen	rs63750066
ebi	rs63750066
HLI	rs63750066
Exac	rs63750066
Gnomad	rs63750066
Varsome	rs63750066
LitVar	rs63750066
Map	rs63750066
PheGenI	rs63750066
Biobank	rs63750066
1000 genomes	rs63750066
hgdp	rs63750066
ensembl	rs63750066
geneview	rs63750066
scholar	rs63750066
google	rs63750066
pharmgkb	rs63750066
gwascentral	rs63750066
openSNP	rs63750066
23andMe	rs63750066
SNPshot	rs63750066
SNPdbe	rs63750066
MSV3d	rs63750066
GWAS Ctlg	rs63750066

GMAF

0.0

Max Magnitude

7

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 28350801] as a "definitely" pathogenic mutation for early-onset Alzheimer's disease.

OMIM	104760
Desc
Variant	0009
Related	also

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,