rs63749967

plus

Geno	Mag	Summary
(C;G)	7	Alzheimer's disease (reported)
(G;G)	0	common/normal

Make rs63749967(C;C)

Reference

GRCh38.p7 38.3/150

Chromosome

14

Position

73170953

Gene

PSEN1

is a	snp
is	mentioned by
dbSNP	rs63749967
dbSNP (classic)	rs63749967
ClinGen	rs63749967
ebi	rs63749967
HLI	rs63749967
Exac	rs63749967
Gnomad	rs63749967
Varsome	rs63749967
LitVar	rs63749967
Map	rs63749967
PheGenI	rs63749967
Biobank	rs63749967
1000 genomes	rs63749967
hgdp	rs63749967
ensembl	rs63749967
geneview	rs63749967
scholar	rs63749967
google	rs63749967
pharmgkb	rs63749967
gwascentral	rs63749967
openSNP	rs63749967
23andMe	rs63749967
SNPshot	rs63749967
SNPdbe	rs63749967
MSV3d	rs63749967
GWAS Ctlg	rs63749967

Max Magnitude

7

rs63749967, also known as c.244G>C, p.Val82Leu or V82L, is a SNP in the presenilin 1 PSEN1 gene.

Inherited as an autosomal dominant, the rare rs63749967(C) allele is considered pathogenic for Alzheimer's disease, potentially early-onset, according to AlzForum.

Reported in [PMID 28350801 ] to be a "definitely" pathogenic mutation.

ClinVar
Risk	rs63749967(C;C)
Alt	rs63749967(C;C)
Reference	Rs63749967(G;G)
Significance	Untested
Disease	not provided
Variation	info
Gene	PSEN1
CLNDBN	not provided
Reversed	0
HGVS	NC_000014.8:g.73637661G>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000084282.1,