rs727503180

Orientation

minus

Stabilized

minus

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

Make rs727503180(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

11

Position

47333996

Gene

MYBPC3

is a	snp
is	mentioned by
dbSNP	rs727503180
dbSNP (classic)	rs727503180
ClinGen	rs727503180
ebi	rs727503180
HLI	rs727503180
Exac	rs727503180
Gnomad	rs727503180
Varsome	rs727503180
LitVar	rs727503180
Map	rs727503180
PheGenI	rs727503180
Biobank	rs727503180
1000 genomes	rs727503180
hgdp	rs727503180
ensembl	rs727503180
geneview	rs727503180
scholar	rs727503180
google	rs727503180
pharmgkb	rs727503180
gwascentral	rs727503180
openSNP	rs727503180
23andMe	rs727503180
SNPshot	rs727503180
SNPdbe	rs727503180
MSV3d	rs727503180
GWAS Ctlg	rs727503180

Max Magnitude

6.2

ClinVar
Risk	rs727503180(T;T)
Alt	rs727503180(T;T)
Reference	Rs727503180(C;C)
Significance	Pathogenic
Disease	Primary familial hypertrophic cardiomyopathy not provided
Variation	info
Gene	MYBPC3
CLNDBN	Primary familial hypertrophic cardiomyopathy not provided
Reversed	1
HGVS	NC_000011.9:g.47355547G>A
CLNSRC	Children's Hospital of Eastern Ontario
CLNACC	RCV000211812.1, RCV000414556.1,