rs397515942

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;G)	6.2	Familial Hypertrophic Cardiomyopathy
(G;G)	0	common in clinvar

Make rs397515942(A;A)

Reference

GRCh38 38.1/141

Chromosome

11

Position

47339670

Gene

MYBPC3

is a	snp
is	mentioned by
dbSNP	rs397515942
dbSNP (classic)	rs397515942
ClinGen	rs397515942
ebi	rs397515942
HLI	rs397515942
Exac	rs397515942
Gnomad	rs397515942
Varsome	rs397515942
LitVar	rs397515942
Map	rs397515942
PheGenI	rs397515942
Biobank	rs397515942
1000 genomes	rs397515942
hgdp	rs397515942
ensembl	rs397515942
geneview	rs397515942
scholar	rs397515942
google	rs397515942
pharmgkb	rs397515942
gwascentral	rs397515942
openSNP	rs397515942
23andMe	rs397515942
SNPshot	rs397515942
SNPdbe	rs397515942
MSV3d	rs397515942
GWAS Ctlg	rs397515942

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	rs397515942(A;A)
Alt	rs397515942(A;A)
Reference	Rs397515942(G;G)
Significance	Pathogenic
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.47361221C>T
CLNSRC	ClinVar
CLNACC	RCV000035459.2, RCV000223849.1,