rs63750687

Orientation

plus

Stabilized

plus

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

Make rs63750687(G;G)

Reference

GRCh38 38.1/142

Chromosome

14

Position

73217137

Gene

PSEN1

is a	snp
is	mentioned by
dbSNP	rs63750687
dbSNP (classic)	rs63750687
ClinGen	rs63750687
ebi	rs63750687
HLI	rs63750687
Exac	rs63750687
Gnomad	rs63750687
Varsome	rs63750687
LitVar	rs63750687
Map	rs63750687
PheGenI	rs63750687
Biobank	rs63750687
1000 genomes	rs63750687
hgdp	rs63750687
ensembl	rs63750687
geneview	rs63750687
scholar	rs63750687
google	rs63750687
pharmgkb	rs63750687
gwascentral	rs63750687
openSNP	rs63750687
23andMe	rs63750687
SNPshot	rs63750687
SNPdbe	rs63750687
MSV3d	rs63750687
GWAS Ctlg	rs63750687

Max Magnitude

8.8

c.1141C>G (p.Leu381Val), and, c.1141C>T (p.Leu381Phe)

23andMe name (for C>G variant): i5047488

ClinVar
Risk	rs63750687(G;G) rs63750687(T;T)
Alt	rs63750687(G;G) rs63750687(T;T)
Reference	Rs63750687(C;C)
Significance	Pathogenic
Disease	not provided Alzheimer disease Alzheimer disease familial 3
Variation	info
Gene	PSEN1
CLNDBN	not provided Alzheimer disease, type 3 Alzheimer disease familial 3, with spastic paraparesis
Reversed	0
HGVS	NC_000014.8:g.73683845C>G; NC_000014.8:g.73683845C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000084397.1, RCV000198517.1, RCV000106293.4,