rs397516007

Orientation

minus

Stabilized

minus

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

Make rs397516007(C;C)

Reference

GRCh38 38.1/141

Chromosome

11

Position

47333331

Gene

MYBPC3

is a	snp
is	mentioned by
dbSNP	rs397516007
dbSNP (classic)	rs397516007
ClinGen	rs397516007
ebi	rs397516007
HLI	rs397516007
Exac	rs397516007
Gnomad	rs397516007
Varsome	rs397516007
LitVar	rs397516007
Map	rs397516007
PheGenI	rs397516007
Biobank	rs397516007
1000 genomes	rs397516007
hgdp	rs397516007
ensembl	rs397516007
geneview	rs397516007
scholar	rs397516007
google	rs397516007
pharmgkb	rs397516007
gwascentral	rs397516007
openSNP	rs397516007
23andMe	rs397516007
SNPshot	rs397516007
SNPdbe	rs397516007
MSV3d	rs397516007
GWAS Ctlg	rs397516007

Max Magnitude

6.2

ClinVar
Risk	rs397516007(C;C)
Alt	rs397516007(C;C)
Reference	Rs397516007(-;-)
Significance	Pathogenic
Disease	not provided Hypertrophic cardiomyopathy Primary familial hypertrophic cardiomyopathy Cardiovascular phenotype
Variation	info
Gene	MYBPC3
CLNDBN	not provided Hypertrophic cardiomyopathy Primary familial hypertrophic cardiomyopathy Cardiovascular phenotype
Reversed	1
HGVS	NC_000011.9:g.47354883dupG
CLNSRC	Children's Hospital of Eastern Ontario
CLNACC	RCV000158392.4, RCV000168202.1, RCV000211817.2, RCV000251587.1,