rs397515947

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(-;C)	6	Familial hypertrophic cardiomyopathy (possible)
(C;C)	0	common in clinvar

Make rs397515947(-;-)

Reference

GRCh38 38.1/141

Chromosome

11

Position

47339376

Gene

MYBPC3

is a	snp
is	mentioned by
dbSNP	rs397515947
dbSNP (classic)	rs397515947
ClinGen	rs397515947
ebi	rs397515947
HLI	rs397515947
Exac	rs397515947
Gnomad	rs397515947
Varsome	rs397515947
LitVar	rs397515947
Map	rs397515947
PheGenI	rs397515947
Biobank	rs397515947
1000 genomes	rs397515947
hgdp	rs397515947
ensembl	rs397515947
geneview	rs397515947
scholar	rs397515947
google	rs397515947
pharmgkb	rs397515947
gwascentral	rs397515947
openSNP	rs397515947
23andMe	rs397515947
SNPshot	rs397515947
SNPdbe	rs397515947
MSV3d	rs397515947
GWAS Ctlg	rs397515947

Max Magnitude

6

The rare minor allele of this variant is reported to be pathogenic/likely pathogenic for familial hypertrophic cardiomyopathy (HCM), according to [PMID 25611685].

ClinVar
Risk	rs397515947(-;-)
Alt	rs397515947(-;-)
Reference	Rs397515947(C;C)
Significance	Pathogenic
Disease	Primary familial hypertrophic cardiomyopathy not provided Hypertrophic cardiomyopathy
Variation	info
Gene	MYBPC3
CLNDBN	Primary familial hypertrophic cardiomyopathy not provided Hypertrophic cardiomyopathy
Reversed	1
HGVS	NC_000011.9:g.47360927delG
CLNSRC	ClinVar
CLNACC	RCV000035464.3, RCV000158358.3, RCV000232610.1,