rs121909374

Orientation

minus

Stabilized

minus

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

Make rs121909374(C;C)

Reference

GRCh38 38.1/141

Chromosome

11

Position

47342578

Gene

MYBPC3

is a	snp
is	mentioned by
dbSNP	rs121909374
dbSNP (classic)	rs121909374
ClinGen	rs121909374
ebi	rs121909374
HLI	rs121909374
Exac	rs121909374
Gnomad	rs121909374
Varsome	rs121909374
LitVar	rs121909374
Map	rs121909374
PheGenI	rs121909374
Biobank	rs121909374
1000 genomes	rs121909374
hgdp	rs121909374
ensembl	rs121909374
geneview	rs121909374
scholar	rs121909374
google	rs121909374
pharmgkb	rs121909374
gwascentral	rs121909374
openSNP	rs121909374
23andMe	rs121909374
SNPshot	rs121909374
SNPdbe	rs121909374
MSV3d	rs121909374
GWAS Ctlg	rs121909374

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].

OMIM	600958
Desc
Variant	0006
Related	also

ClinVar
Risk	rs121909374(C;C)
Alt	rs121909374(C;C)
Reference	Rs121909374(G;G)
Significance	Other
Disease	not provided Familial hypertrophic cardiomyopathy 4 Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy Familial hypertrophic cardiomyopathy 1 Cardiovascular phenotype
Variation	info
Gene	MYBPC3
CLNDBN	not provided Familial hypertrophic cardiomyopathy 4 Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy Familial hypertrophic cardiomyopathy 1 Cardiovascular phenotype
Reversed	1
HGVS	NC_000011.9:g.47364129C>A; NC_000011.9:g.47364129C>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000494171.1, RCV000009139.8, RCV000035424.5, RCV000158104.4, RCV000199033.3, RCV000201915.1, RCV000247235.1,