rs267606983

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;G)	8.8	Alzheimer's disease, early-onset (reported)
(G;G)	0	common in clinvar

Make rs267606983(C;C)

Reference

GRCh38 38.1/141

Chromosome

14

Position

73192744

Gene

PSEN1

is a	snp
is	mentioned by
dbSNP	rs267606983
dbSNP (classic)	rs267606983
ClinGen	rs267606983
ebi	rs267606983
HLI	rs267606983
Exac	rs267606983
Gnomad	rs267606983
Varsome	rs267606983
LitVar	rs267606983
Map	rs267606983
PheGenI	rs267606983
Biobank	rs267606983
1000 genomes	rs267606983
hgdp	rs267606983
ensembl	rs267606983
geneview	rs267606983
scholar	rs267606983
google	rs267606983
pharmgkb	rs267606983
gwascentral	rs267606983
openSNP	rs267606983
23andMe	rs267606983
SNPshot	rs267606983
SNPdbe	rs267606983
MSV3d	rs267606983
GWAS Ctlg	rs267606983

Max Magnitude

8.8

c.649G>C (p.Gly217Arg)

23andMe name: i5007550

ClinVar
Risk	rs267606983(C;C)
Alt	rs267606983(C;C)
Reference	Rs267606983(G;G)
Significance	Pathogenic
Disease	Alzheimer disease
Variation	info
Gene	PSEN1
CLNDBN	Alzheimer disease, familial, 3, with unusual plaques
Reversed	0
HGVS	NC_000014.8:g.73659452G>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000019789.28,