rs63750064

minus

Geno	Mag	Summary
(A;G)	6	Significantly increased risk for Alzheimer's disease
(C;G)	6	Significantly increased risk for Alzheimer's disease
(G;G)	0	common/normal

Make rs63750064(A;A)

Reference

GRCh38.p7 38.3/149

Chromosome

21

Position

25897605

Gene

APP

is a	snp
is	mentioned by
dbSNP	rs63750064
dbSNP (classic)	rs63750064
ClinGen	rs63750064
ebi	rs63750064
HLI	rs63750064
Exac	rs63750064
Gnomad	rs63750064
Varsome	rs63750064
LitVar	rs63750064
Map	rs63750064
PheGenI	rs63750064
Biobank	rs63750064
1000 genomes	rs63750064
hgdp	rs63750064
ensembl	rs63750064
geneview	rs63750064
scholar	rs63750064
google	rs63750064
pharmgkb	rs63750064
gwascentral	rs63750064
openSNP	rs63750064
23andMe	rs63750064
SNPshot	rs63750064
SNPdbe	rs63750064
MSV3d	rs63750064
GWAS Ctlg	rs63750064

Max Magnitude

6

rs63750064, also known as D678H and D678N, represents two rare mutations in the APP gene.

The G>C mutation for this SNP leads to D678H, apparently associated with early-onset Alzheimer's disease, inherited dominantly, although perhaps based on only one publication.AlzForum

The G>A mutation for this SNP leads to D678N, apparently also associated with early-onset Alzheimer's disease, inherited dominantly, and also based on only one publication.AlzForum

ClinVar
Risk	rs63750064(A;A)
Alt	rs63750064(A;A)
Reference	Rs63750064(G;G)
Significance	Untested
Disease	not provided
Variation	info
Gene	APP
CLNDBN	not provided
Reversed	1
HGVS	NC_000021.8:g.27269917C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000084560.1,