rs63750973

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	8	Considered pathogenic for an early-onset form of Alzheimer's disease

Make rs63750973(T;T)

Reference

GRCh38 38.1/141

Chromosome

21

Position

25891792

Gene

APP

is a	snp
is	mentioned by
dbSNP	rs63750973
dbSNP (classic)	rs63750973
ClinGen	rs63750973
ebi	rs63750973
HLI	rs63750973
Exac	rs63750973
Gnomad	rs63750973
Varsome	rs63750973
LitVar	rs63750973
Map	rs63750973
PheGenI	rs63750973
Biobank	rs63750973
1000 genomes	rs63750973
hgdp	rs63750973
ensembl	rs63750973
geneview	rs63750973
scholar	rs63750973
google	rs63750973
pharmgkb	rs63750973
gwascentral	rs63750973
openSNP	rs63750973
23andMe	rs63750973
SNPshot	rs63750973
SNPdbe	rs63750973
MSV3d	rs63750973
GWAS Ctlg	rs63750973

Max Magnitude

8

rs63750973, also known as c.2141C>T, p.Thr714Ile or T714I, represents a rare mutation in the APP gene.

Inherited dominantly, the rare minor allele is considered pathogenic for an aggressive, early-onset form of Alzheimer's disease; for more information, see ClinVar, AlzForum or OMIM.

OMIM	104760
Desc
Variant	0015
Related	also

ClinVar
Risk	rs63750973(T;T)
Alt	rs63750973(T;T)
Reference	Rs63750973(C;C)
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.27264104G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019728.26, RCV000084569.1,