rs397515889

Orientation

minus

Stabilized

minus

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

Make rs397515889(-;-)

Reference

GRCh38 38.1/141

Chromosome

11

Position

47343547

Gene

MYBPC3

is a	snp
is	mentioned by
dbSNP	rs397515889
dbSNP (classic)	rs397515889
ClinGen	rs397515889
ebi	rs397515889
HLI	rs397515889
Exac	rs397515889
Gnomad	rs397515889
Varsome	rs397515889
LitVar	rs397515889
Map	rs397515889
PheGenI	rs397515889
Biobank	rs397515889
1000 genomes	rs397515889
hgdp	rs397515889
ensembl	rs397515889
geneview	rs397515889
scholar	rs397515889
google	rs397515889
pharmgkb	rs397515889
gwascentral	rs397515889
openSNP	rs397515889
23andMe	rs397515889
SNPshot	rs397515889
SNPdbe	rs397515889
MSV3d	rs397515889
GWAS Ctlg	rs397515889

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	rs397515889(-;-)
Alt	rs397515889(-;-)
Reference	Rs397515889(C;C)
Significance	Pathogenic
Disease	Primary familial hypertrophic cardiomyopathy Cardiomyopathy
Variation	info
Gene	MYBPC3
CLNDBN	Primary familial hypertrophic cardiomyopathy Cardiomyopathy
Reversed	1
HGVS	NC_000011.9:g.47365098delG
CLNSRC	ClinVar
CLNACC	RCV000035373.2, RCV000158489.1,