rs121434525

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	0	common in clinvar

Make rs121434525(A;G)

Make rs121434525(G;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

236686699

Gene

ACTN2

is a	snp
is	mentioned by
dbSNP	rs121434525
dbSNP (classic)	rs121434525
ClinGen	rs121434525
ebi	rs121434525
HLI	rs121434525
Exac	rs121434525
Gnomad	rs121434525
Varsome	rs121434525
LitVar	rs121434525
Map	rs121434525
PheGenI	rs121434525
Biobank	rs121434525
1000 genomes	rs121434525
hgdp	rs121434525
ensembl	rs121434525
geneview	rs121434525
scholar	rs121434525
google	rs121434525
pharmgkb	rs121434525
gwascentral	rs121434525
openSNP	rs121434525
23andMe	rs121434525
SNPshot	rs121434525
SNPdbe	rs121434525
MSV3d	rs121434525
GWAS Ctlg	rs121434525

GMAF

0.0009183

Max Magnitude

0

OMIM	102573
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121434525(G;G)
Alt	rs121434525(G;G)
Reference	Rs121434525(A;A)
Significance	Pathogenic
Disease	Dilated cardiomyopathy 1AA not specified Dilated cardiomyopathy Cardiovascular phenotype Primary familial hypertrophic cardiomyopathy
Variation	info
Gene	ACTN2
CLNDBN	Dilated cardiomyopathy 1AA not specified Dilated cardiomyopathy Cardiovascular phenotype Primary familial hypertrophic cardiomyopathy
Reversed	0
HGVS	NC_000001.10:g.236849999A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019977.29, RCV000036908.3, RCV000172514.1, RCV000245795.1, RCV000461895.1,