rs281875357

Orientation

plus

Stabilized

plus

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

Make rs281875357(TG;TG)

Reference

GRCh38 38.1/141

Chromosome

14

Position

73219185

Gene

PSEN1

is a	snp
is	mentioned by
dbSNP	rs281875357
dbSNP (classic)	rs281875357
ClinGen	rs281875357
ebi	rs281875357
HLI	rs281875357
Exac	rs281875357
Gnomad	rs281875357
Varsome	rs281875357
LitVar	rs281875357
Map	rs281875357
PheGenI	rs281875357
Biobank	rs281875357
1000 genomes	rs281875357
hgdp	rs281875357
ensembl	rs281875357
geneview	rs281875357
scholar	rs281875357
google	rs281875357
pharmgkb	rs281875357
gwascentral	rs281875357
openSNP	rs281875357
23andMe	rs281875357
SNPshot	rs281875357
SNPdbe	rs281875357
MSV3d	rs281875357
GWAS Ctlg	rs281875357

Max Magnitude

8.8

c.1300_1301delGCinsTG (p.Ala434Cys)

ClinVar
Risk	rs281875357(TG;TG)
Alt	rs281875357(TG;TG)
Reference	Rs281875357(GC;GC)
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.73685893_73685894delGCinsTG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000019771.27, RCV000084588.1,