rs397515991

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;G)	6	Familial hypertrophic cardiomyopathy (possible)
(C;G)	6.2	Familial Hypertrophic Cardiomyopathy
(G;G)	0	common in clinvar

Make rs397515991(A;A)

Reference

GRCh38 38.1/141

Chromosome

11

Position

47335041

Gene

MYBPC3

is a	snp
is	mentioned by
dbSNP	rs397515991
dbSNP (classic)	rs397515991
ClinGen	rs397515991
ebi	rs397515991
HLI	rs397515991
Exac	rs397515991
Gnomad	rs397515991
Varsome	rs397515991
LitVar	rs397515991
Map	rs397515991
PheGenI	rs397515991
Biobank	rs397515991
1000 genomes	rs397515991
hgdp	rs397515991
ensembl	rs397515991
geneview	rs397515991
scholar	rs397515991
google	rs397515991
pharmgkb	rs397515991
gwascentral	rs397515991
openSNP	rs397515991
23andMe	rs397515991
SNPshot	rs397515991
SNPdbe	rs397515991
MSV3d	rs397515991
GWAS Ctlg	rs397515991

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].

23andMe name: i704231

ClinVar
Risk	rs397515991(A;A) rs397515991(C;C)
Alt	rs397515991(A;A) rs397515991(C;C)
Reference	Rs397515991(G;G)
Significance	Other
Disease	Primary familial hypertrophic cardiomyopathy Familial hypertrophic cardiomyopathy 4 not provided Hypertrophic cardiomyopathy
Variation	info
Gene	MYBPC3
CLNDBN	Primary familial hypertrophic cardiomyopathy Familial hypertrophic cardiomyopathy 4 not provided Hypertrophic cardiomyopathy
Reversed	1
HGVS	NC_000011.9:g.47356592C>G; NC_000011.9:g.47356592C>T
CLNSRC	ClinVar
CLNACC	RCV000035538.2, RCV000035537.6, RCV000158196.3, RCV000195678.2, RCV000211811.1,