rs121917809

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(A;G)	6	Primary dilated cardiomyopathy (reported)

Make rs121917809(G;G)

Reference

GRCh38 38.1/141

Chromosome

14

Position

73211811

Gene

PSEN1

is a	snp
is	mentioned by
dbSNP	rs121917809
dbSNP (classic)	rs121917809
ClinGen	rs121917809
ebi	rs121917809
HLI	rs121917809
Exac	rs121917809
Gnomad	rs121917809
Varsome	rs121917809
LitVar	rs121917809
Map	rs121917809
PheGenI	rs121917809
Biobank	rs121917809
1000 genomes	rs121917809
hgdp	rs121917809
ensembl	rs121917809
geneview	rs121917809
scholar	rs121917809
google	rs121917809
pharmgkb	rs121917809
gwascentral	rs121917809
openSNP	rs121917809
23andMe	rs121917809
SNPshot	rs121917809
SNPdbe	rs121917809
MSV3d	rs121917809
GWAS Ctlg	rs121917809

Max Magnitude

6

c.998A>G (p.Asp333Gly)

23andMe name: i5007549

OMIM	104311
Desc
Variant	0034
Related	also

ClinVar
Risk	rs121917809(G;G)
Alt	rs121917809(G;G)
Reference	Rs121917809(A;A)
Significance	Pathogenic
Disease	Cardiomyopathy Heart failure Primary dilated cardiomyopathy
Variation	info
Gene	PSEN1
CLNDBN	Cardiomyopathy, dilated, 1u Heart failure Primary dilated cardiomyopathy
Reversed	0
HGVS	NC_000014.8:g.73678519A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019786.27, RCV000171844.2,