rs63750082

Orientation

plus

Stabilized

plus

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

Make rs63750082(C;C)

Reference

GRCh38 38.1/141

Chromosome

14

Position

73192712

Gene

PSEN1

is a	snp
is	mentioned by
dbSNP	rs63750082
dbSNP (classic)	rs63750082
ClinGen	rs63750082
ebi	rs63750082
HLI	rs63750082
Exac	rs63750082
Gnomad	rs63750082
Varsome	rs63750082
LitVar	rs63750082
Map	rs63750082
PheGenI	rs63750082
Biobank	rs63750082
1000 genomes	rs63750082
hgdp	rs63750082
ensembl	rs63750082
geneview	rs63750082
scholar	rs63750082
google	rs63750082
pharmgkb	rs63750082
gwascentral	rs63750082
openSNP	rs63750082
23andMe	rs63750082
SNPshot	rs63750082
SNPdbe	rs63750082
MSV3d	rs63750082
GWAS Ctlg	rs63750082

Max Magnitude

8.8

OMIM	104311
Desc
Variant	0021
Related	also

ClinVar
Risk	rs63750082(C;C) rs63750082(T;T)
Alt	rs63750082(C;C) rs63750082(T;T)
Reference	Rs63750082(G;G)
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.73659420G>C; NC_000014.8:g.73659420G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019773.28, RCV000084338.1,