rs397515987

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(-;CG)	6.2	Familial Hypertrophic Cardiomyopathy
(CG;CG)	0	common in clinvar

Make rs397515987(-;-)

Reference

GRCh38 38.1/141

Chromosome

11

Position

47335113

Gene

MYBPC3

is a	snp
is	mentioned by
dbSNP	rs397515987
dbSNP (classic)	rs397515987
ClinGen	rs397515987
ebi	rs397515987
HLI	rs397515987
Exac	rs397515987
Gnomad	rs397515987
Varsome	rs397515987
LitVar	rs397515987
Map	rs397515987
PheGenI	rs397515987
Biobank	rs397515987
1000 genomes	rs397515987
hgdp	rs397515987
ensembl	rs397515987
geneview	rs397515987
scholar	rs397515987
google	rs397515987
pharmgkb	rs397515987
gwascentral	rs397515987
openSNP	rs397515987
23andMe	rs397515987
SNPshot	rs397515987
SNPdbe	rs397515987
MSV3d	rs397515987
GWAS Ctlg	rs397515987

Max Magnitude

6.2

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	rs397515987(-;-)
Alt	rs397515987(-;-)
Reference	Rs397515987(CG;CG)
Significance	Other
Disease	Primary familial hypertrophic cardiomyopathy not provided
Variation	info
Gene	MYBPC3
CLNDBN	Primary familial hypertrophic cardiomyopathy not provided
Reversed	1
HGVS	NC_000011.9:g.47356664_47356665delCG
CLNSRC	ClinVar
CLNACC	RCV000035530.2, RCV000158380.2,