rs63750218

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;T)	8	Alzheimers disease
(T;T)	0	common in clinvar

Make rs63750218(C;C)

Reference

GRCh38 38.1/141

Chromosome

14

Position

73217171

Gene

PSEN1

is a	snp
is	mentioned by
dbSNP	rs63750218
dbSNP (classic)	rs63750218
ClinGen	rs63750218
ebi	rs63750218
HLI	rs63750218
Exac	rs63750218
Gnomad	rs63750218
Varsome	rs63750218
LitVar	rs63750218
Map	rs63750218
PheGenI	rs63750218
Biobank	rs63750218
1000 genomes	rs63750218
hgdp	rs63750218
ensembl	rs63750218
geneview	rs63750218
scholar	rs63750218
google	rs63750218
pharmgkb	rs63750218
gwascentral	rs63750218
openSNP	rs63750218
23andMe	rs63750218
SNPshot	rs63750218
SNPdbe	rs63750218
MSV3d	rs63750218
GWAS Ctlg	rs63750218

Max Magnitude

8

rs63750218, also known as L392P or Leu392Pro, is a SNP in the presenilin 1 PSEN1 gene.

The rare rs63750218(C) allele is reported as a pathogenic mutation for Alzheimer's disease.[PMID 11094128]

ClinVar
Risk	rs63750218(C;C) rs63750218(G;G)
Alt	rs63750218(C;C) rs63750218(G;G)
Reference	Rs63750218(T;T)
Significance	Pathogenic
Disease	Alzheimer disease not provided
Variation	info
Gene	PSEN1
CLNDBN	Alzheimer disease, type 3 not provided
Reversed	0
HGVS	NC_000014.8:g.73683879T>C
CLNSRC	ClinVar GeneReviews Neurodegenerative Brain Diseases Group
CLNACC	RCV000020082.1, RCV000084403.1,

[PMID 11094128] A presenilin-1 mutation (Leu392Pro) in a familial AD kindred with psychiatric symptoms at onset.