rs796596743

Merged into

rs397515963

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;-)	0	common in clinvar

Make rs796596743(-;C)

Make rs796596743(C;C)

Reference

GRCh38.p7 38.3/149

Chromosome

11

Position

47337730

Gene

MYBPC3

is a	snp
is	mentioned by
dbSNP	rs796596743
dbSNP (classic)	rs796596743
ClinGen	rs796596743
ebi	rs796596743
HLI	rs796596743
Exac	rs796596743
Gnomad	rs796596743
Varsome	rs796596743
LitVar	rs796596743
Map	rs796596743
PheGenI	rs796596743
Biobank	rs796596743
1000 genomes	rs796596743
hgdp	rs796596743
ensembl	rs796596743
geneview	rs796596743
scholar	rs796596743
google	rs796596743
pharmgkb	rs796596743
gwascentral	rs796596743
openSNP	rs796596743
23andMe	rs796596743
SNPshot	rs796596743
SNPdbe	rs796596743
MSV3d	rs796596743
GWAS Ctlg	rs796596743

Status

Merged into rs397515963

Max Magnitude

0

ClinVar
Risk	rs796596743(C;C)
Alt	rs796596743(C;C)
Reference	Rs796596743(;)
Significance	Pathogenic
Disease	Familial hypertrophic cardiomyopathy 4 Primary familial hypertrophic cardiomyopathy Familial hypertrophic cardiomyopathy 1 Hypertrophic cardiomyopathy not provided Cardiovascular phenotype
Variation	info
Gene	MYBPC3
CLNDBN	Familial hypertrophic cardiomyopathy 4 Primary familial hypertrophic cardiomyopathy Familial hypertrophic cardiomyopathy 1 Hypertrophic cardiomyopathy not provided Cardiovascular phenotype
Reversed	0
HGVS	NC_000011.9:g.47359281dupC
CLNSRC	Centenary Institute Children's Hospital of Eastern Ontario MYBPC3 homepage - Leiden Muscular Dystrophy pages OMIM Allelic Variant
CLNACC	RCV000035487.6, RCV000157312.3, RCV000162332.1, RCV000198895.3, RCV000223694.2, RCV000245146.1,