rs397514752

Orientation

minus

Stabilized

minus

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

Make rs397514752(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

47342733

Gene

MYBPC3

is a	snp
is	mentioned by
dbSNP	rs397514752
dbSNP (classic)	rs397514752
ClinGen	rs397514752
ebi	rs397514752
HLI	rs397514752
Exac	rs397514752
Gnomad	rs397514752
Varsome	rs397514752
LitVar	rs397514752
Map	rs397514752
PheGenI	rs397514752
Biobank	rs397514752
1000 genomes	rs397514752
hgdp	rs397514752
ensembl	rs397514752
geneview	rs397514752
scholar	rs397514752
google	rs397514752
pharmgkb	rs397514752
gwascentral	rs397514752
openSNP	rs397514752
23andMe	rs397514752
SNPshot	rs397514752
SNPdbe	rs397514752
MSV3d	rs397514752
GWAS Ctlg	rs397514752

Max Magnitude

6.2

ClinVar
Risk	rs397514752(A;A) rs397514752(T;T)
Alt	rs397514752(A;A) rs397514752(T;T)
Reference	Rs397514752(G;G)
Significance	Pathogenic
Disease	Familial hypertrophic cardiomyopathy 4
Variation	info
Gene	MYBPC3
CLNDBN	Familial hypertrophic cardiomyopathy 4
Reversed	1
HGVS	NC_000011.9:g.47364284C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000054804.3,