rs63749964

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;T)	7	Likely miscall in 23andMe v4 data; otherwise, Alzheimer's disease pathogenic mutation
(T;T)	0	common in clinvar

Make rs63749964(G;G)

Reference

GRCh38 38.1/141

Chromosome

21

Position

25891783

Gene

APP

is a	snp
is	mentioned by
dbSNP	rs63749964
dbSNP (classic)	rs63749964
ClinGen	rs63749964
ebi	rs63749964
HLI	rs63749964
Exac	rs63749964
Gnomad	rs63749964
Varsome	rs63749964
LitVar	rs63749964
Map	rs63749964
PheGenI	rs63749964
Biobank	rs63749964
1000 genomes	rs63749964
hgdp	rs63749964
ensembl	rs63749964
geneview	rs63749964
scholar	rs63749964
google	rs63749964
pharmgkb	rs63749964
gwascentral	rs63749964
openSNP	rs63749964
23andMe	rs63749964
SNPshot	rs63749964
SNPdbe	rs63749964
MSV3d	rs63749964
GWAS Ctlg	rs63749964

Max Magnitude

7

c.2150T>G, p.Val717Gly, V717G

AlzForum

OMIM	104760
Desc
Variant	0004
Related	also

ClinVar
Risk	rs63749964(G;G)
Alt	rs63749964(G;G)
Reference	Rs63749964(T;T)
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.27264095A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019716.27, RCV000084576.1,