rs727504314

Orientation

minus

Stabilized

minus

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

Make rs727504314(C;C)

Reference

GRCh38.p2 38.2/147

Chromosome

11

Position

47335876

Gene

MYBPC3

is a	snp
is	mentioned by
dbSNP	rs727504314
dbSNP (classic)	rs727504314
ClinGen	rs727504314
ebi	rs727504314
HLI	rs727504314
Exac	rs727504314
Gnomad	rs727504314
Varsome	rs727504314
LitVar	rs727504314
Map	rs727504314
PheGenI	rs727504314
Biobank	rs727504314
1000 genomes	rs727504314
hgdp	rs727504314
ensembl	rs727504314
geneview	rs727504314
scholar	rs727504314
google	rs727504314
pharmgkb	rs727504314
gwascentral	rs727504314
openSNP	rs727504314
23andMe	rs727504314
SNPshot	rs727504314
SNPdbe	rs727504314
MSV3d	rs727504314
GWAS Ctlg	rs727504314

Max Magnitude

6.2

The rare minor allele of this variant is reported to be pathogenic/likely pathogenic for familial hypertrophic cardiomyopathy (HCM), according to [PMID 25611685].

ClinVar
Risk	rs727504314(C;C)
Alt	rs727504314(C;C)
Reference	Rs727504314(G;G)
Significance	Other
Disease	Primary familial hypertrophic cardiomyopathy
Variation	info
Gene	MYBPC3
CLNDBN	Primary familial hypertrophic cardiomyopathy
Reversed	1
HGVS	NC_000011.9:g.47357427C>G
CLNSRC
CLNACC	RCV000211809.1,