rs397515977

Orientation

minus

Stabilized

minus

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

Make rs397515977(-;-)

Reference

GRCh38 38.1/141

Chromosome

11

Position

47337435

Gene

MYBPC3

is a	snp
is	mentioned by
dbSNP	rs397515977
dbSNP (classic)	rs397515977
ClinGen	rs397515977
ebi	rs397515977
HLI	rs397515977
Exac	rs397515977
Gnomad	rs397515977
Varsome	rs397515977
LitVar	rs397515977
Map	rs397515977
PheGenI	rs397515977
Biobank	rs397515977
1000 genomes	rs397515977
hgdp	rs397515977
ensembl	rs397515977
geneview	rs397515977
scholar	rs397515977
google	rs397515977
pharmgkb	rs397515977
gwascentral	rs397515977
openSNP	rs397515977
23andMe	rs397515977
SNPshot	rs397515977
SNPdbe	rs397515977
MSV3d	rs397515977
GWAS Ctlg	rs397515977

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	rs397515977(-;-)
Alt	rs397515977(-;-)
Reference	Rs397515977(G;G)
Significance	Pathogenic
Disease	not provided Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy
Variation	info
Gene	MYBPC3
CLNDBN	not provided Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy
Reversed	1
HGVS	NC_000011.9:g.47358986delC
CLNSRC	Children's Hospital of Eastern Ontario
CLNACC	RCV000158367.3, RCV000211808.2, RCV000473384.1,