rs63750301

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common/normal
(C;T)	8.8	Alzheimer's disease, early-onset (reported)

Make rs63750301(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

14

Position

73198052

Gene

PSEN1

is a	snp
is	mentioned by
dbSNP	rs63750301
dbSNP (classic)	rs63750301
ClinGen	rs63750301
ebi	rs63750301
HLI	rs63750301
Exac	rs63750301
Gnomad	rs63750301
Varsome	rs63750301
LitVar	rs63750301
Map	rs63750301
PheGenI	rs63750301
Biobank	rs63750301
1000 genomes	rs63750301
hgdp	rs63750301
ensembl	rs63750301
geneview	rs63750301
scholar	rs63750301
google	rs63750301
pharmgkb	rs63750301
gwascentral	rs63750301
openSNP	rs63750301
23andMe	rs63750301
SNPshot	rs63750301
SNPdbe	rs63750301
MSV3d	rs63750301
GWAS Ctlg	rs63750301

Max Magnitude

8.8

c.791C>T (p.Pro264Leu)

Atypical presentation of Alzheimer's; see AlzForum

ClinVar
Risk	rs63750301(T;T)
Alt	rs63750301(T;T)
Reference	Rs63750301(C;C)
Significance	Probable-Pathogenic
Disease	not provided Dementia Mental deterioration
Variation	info
Gene	PSEN1
CLNDBN	not provided Dementia Mental deterioration
Reversed	0
HGVS	NC_000014.8:g.73664760C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000084370.1, RCV000415376.1,