rs397515954

Orientation

minus

Stabilized

minus

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

Make rs397515954(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

47338646

Gene

MYBPC3

is a	snp
is	mentioned by
dbSNP	rs397515954
dbSNP (classic)	rs397515954
ClinGen	rs397515954
ebi	rs397515954
HLI	rs397515954
Exac	rs397515954
Gnomad	rs397515954
Varsome	rs397515954
LitVar	rs397515954
Map	rs397515954
PheGenI	rs397515954
Biobank	rs397515954
1000 genomes	rs397515954
hgdp	rs397515954
ensembl	rs397515954
geneview	rs397515954
scholar	rs397515954
google	rs397515954
pharmgkb	rs397515954
gwascentral	rs397515954
openSNP	rs397515954
23andMe	rs397515954
SNPshot	rs397515954
SNPdbe	rs397515954
MSV3d	rs397515954
GWAS Ctlg	rs397515954

Max Magnitude

6.2

ClinVar
Risk	rs397515954(T;T)
Alt	rs397515954(T;T)
Reference	Rs397515954(G;G)
Significance	Pathogenic
Disease	not provided Primary familial hypertrophic cardiomyopathy
Variation	info
Gene	MYBPC3
CLNDBN	not provided Primary familial hypertrophic cardiomyopathy
Reversed	1
HGVS	NC_000011.9:g.47360197C>A
CLNSRC	Children's Hospital of Eastern Ontario
CLNACC	RCV000158141.1, RCV000211803.1,