rs397515992

Orientation

minus

Stabilized

minus

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

Make rs397515992(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

47335042

Gene

MYBPC3

is a	snp
is	mentioned by
dbSNP	rs397515992
dbSNP (classic)	rs397515992
ClinGen	rs397515992
ebi	rs397515992
HLI	rs397515992
Exac	rs397515992
Gnomad	rs397515992
Varsome	rs397515992
LitVar	rs397515992
Map	rs397515992
PheGenI	rs397515992
Biobank	rs397515992
1000 genomes	rs397515992
hgdp	rs397515992
ensembl	rs397515992
geneview	rs397515992
scholar	rs397515992
google	rs397515992
pharmgkb	rs397515992
gwascentral	rs397515992
openSNP	rs397515992
23andMe	rs397515992
SNPshot	rs397515992
SNPdbe	rs397515992
MSV3d	rs397515992
GWAS Ctlg	rs397515992

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	rs397515992(T;T)
Alt	rs397515992(T;T)
Reference	Rs397515992(C;C)
Significance	Pathogenic
Disease	Primary familial hypertrophic cardiomyopathy not provided Familial hypertrophic cardiomyopathy 1
Variation	info
Gene	MYBPC3
CLNDBN	Primary familial hypertrophic cardiomyopathy not provided Familial hypertrophic cardiomyopathy 1
Reversed	1
HGVS	NC_000011.9:g.47356593G>A
CLNSRC	ClinVar
CLNACC	RCV000035540.2, RCV000158195.3, RCV000201916.1,