rs63750900

Orientation

plus

Stabilized

plus

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

Make rs63750900(A;A)

Reference

GRCh38 38.1/141

Chromosome

14

Position

73198067

Gene

PSEN1

is a	snp
is	mentioned by
dbSNP	rs63750900
dbSNP (classic)	rs63750900
ClinGen	rs63750900
ebi	rs63750900
HLI	rs63750900
Exac	rs63750900
Gnomad	rs63750900
Varsome	rs63750900
LitVar	rs63750900
Map	rs63750900
PheGenI	rs63750900
Biobank	rs63750900
1000 genomes	rs63750900
hgdp	rs63750900
ensembl	rs63750900
geneview	rs63750900
scholar	rs63750900
google	rs63750900
pharmgkb	rs63750900
gwascentral	rs63750900
openSNP	rs63750900
23andMe	rs63750900
SNPshot	rs63750900
SNPdbe	rs63750900
MSV3d	rs63750900
GWAS Ctlg	rs63750900

Max Magnitude

9

rs63750900, also known as R269H or Arg269His, is a SNP in the presenilin 1 PSEN1 gene.

The rare rs63750900(A) allele is considered causative for early-onset Alzheimer's disease.{{PMID|

ClinVar
Risk	rs63750900(A;A)
Alt	rs63750900(A;A)
Reference	Rs63750900(G;G)
Significance	Pathogenic
Disease	Alzheimer disease not provided
Variation	info
Gene	PSEN1
CLNDBN	Alzheimer disease, type 4 not provided
Reversed	0
HGVS	NC_000014.8:g.73664775G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000031858.1, RCV000084374.1,

[PMID 16267640] Clinical phenotypic heterogeneity of Alzheimer's disease associated with mutations of the presenilin-1 gene.