rs121917807

Orientation

plus

Stabilized

plus

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

Make rs121917807(A;A)

Reference

GRCh38 38.1/141

Chromosome

14

Position

73198057

Gene

PSEN1

is a	snp
is	mentioned by
dbSNP	rs121917807
dbSNP (classic)	rs121917807
ClinGen	rs121917807
ebi	rs121917807
HLI	rs121917807
Exac	rs121917807
Gnomad	rs121917807
Varsome	rs121917807
LitVar	rs121917807
Map	rs121917807
PheGenI	rs121917807
Biobank	rs121917807
1000 genomes	rs121917807
hgdp	rs121917807
ensembl	rs121917807
geneview	rs121917807
scholar	rs121917807
google	rs121917807
pharmgkb	rs121917807
gwascentral	rs121917807
openSNP	rs121917807
23andMe	rs121917807
SNPshot	rs121917807
SNPdbe	rs121917807
MSV3d	rs121917807
GWAS Ctlg	rs121917807

Max Magnitude

8.8

c.796G>A (p.Gly266Ser)

23andMe name: i5007548

OMIM	104311
Desc
Variant	0022
Related	also

ClinVar
Risk	rs121917807(A;A)
Alt	rs121917807(A;A)
Reference	Rs121917807(G;G)
Significance	Pathogenic
Disease	Alzheimer disease
Variation	info
Gene	PSEN1
CLNDBN	Alzheimer disease, familial, 3, with spastic paraparesis and apraxia
Reversed	0
HGVS	NC_000014.8:g.73664765G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019774.28,