rs730880138

Orientation

minus

Stabilized

minus

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

Make rs730880138(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

11

Position

47334008

Gene

MYBPC3

is a	snp
is	mentioned by
dbSNP	rs730880138
dbSNP (classic)	rs730880138
ClinGen	rs730880138
ebi	rs730880138
HLI	rs730880138
Exac	rs730880138
Gnomad	rs730880138
Varsome	rs730880138
LitVar	rs730880138
Map	rs730880138
PheGenI	rs730880138
Biobank	rs730880138
1000 genomes	rs730880138
hgdp	rs730880138
ensembl	rs730880138
geneview	rs730880138
scholar	rs730880138
google	rs730880138
pharmgkb	rs730880138
gwascentral	rs730880138
openSNP	rs730880138
23andMe	rs730880138
SNPshot	rs730880138
SNPdbe	rs730880138
MSV3d	rs730880138
GWAS Ctlg	rs730880138

Max Magnitude

6.2

ClinVar
Risk	rs730880138(T;T)
Alt	rs730880138(T;T)
Reference	Rs730880138(C;C)
Significance	Probable-Pathogenic
Disease	Primary familial hypertrophic cardiomyopathy
Variation	info
Gene	MYBPC3
CLNDBN	Primary familial hypertrophic cardiomyopathy
Reversed	1
HGVS	NC_000011.9:g.47355559G>A
CLNSRC
CLNACC	RCV000157315.1,