rs63750886

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;G)	9	early-onset Alzheimers disease

Make rs63750886(G;G)

Reference

GRCh38 38.1/141

Chromosome

14

Position

73198072

Gene

PSEN1

is a	snp
is	mentioned by
dbSNP	rs63750886
dbSNP (classic)	rs63750886
ClinGen	rs63750886
ebi	rs63750886
HLI	rs63750886
Exac	rs63750886
Gnomad	rs63750886
Varsome	rs63750886
LitVar	rs63750886
Map	rs63750886
PheGenI	rs63750886
Biobank	rs63750886
1000 genomes	rs63750886
hgdp	rs63750886
ensembl	rs63750886
geneview	rs63750886
scholar	rs63750886
google	rs63750886
pharmgkb	rs63750886
gwascentral	rs63750886
openSNP	rs63750886
23andMe	rs63750886
SNPshot	rs63750886
SNPdbe	rs63750886
MSV3d	rs63750886
GWAS Ctlg	rs63750886

Max Magnitude

9

rs63750886, also known as L271V or Leu271Val, is a SNP in the presenilin 1 PSEN1 gene.

The rare rs63750886(G) allele is considered causative for early-onset Alzheimer's disease.[PMID 9172170]

OMIM	104311
Desc
Variant	0026
Related	also

ClinVar
Risk	rs63750886(G;G)
Alt	rs63750886(G;G)
Reference	Rs63750886(C;C)
Significance	Pathogenic
Disease	Alzheimer disease not provided
Variation	info
Gene	PSEN1
CLNDBN	Alzheimer disease, familial, 3, with unusual plaques not provided
Reversed	0
HGVS	NC_000014.8:g.73664780C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019778.28, RCV000084375.1,