rs121909377

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in clinvar
(G;T)	4	Miscall likely if from 23andMe data; If not, familial hypertrophic cardiomyopathy 4

Make rs121909377(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

47333238

Gene

MYBPC3

is a	snp
is	mentioned by
dbSNP	rs121909377
dbSNP (classic)	rs121909377
ClinGen	rs121909377
ebi	rs121909377
HLI	rs121909377
Exac	rs121909377
Gnomad	rs121909377
Varsome	rs121909377
LitVar	rs121909377
Map	rs121909377
PheGenI	rs121909377
Biobank	rs121909377
1000 genomes	rs121909377
hgdp	rs121909377
ensembl	rs121909377
geneview	rs121909377
scholar	rs121909377
google	rs121909377
pharmgkb	rs121909377
gwascentral	rs121909377
openSNP	rs121909377
23andMe	rs121909377
SNPshot	rs121909377
SNPdbe	rs121909377
MSV3d	rs121909377
GWAS Ctlg	rs121909377

Max Magnitude

4

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	0014
Related	also

ClinVar
Risk	rs121909377(A;A) rs121909377(T;T)
Alt	rs121909377(A;A) rs121909377(T;T)
Reference	Rs121909377(G;G)
Significance	Other
Disease	Familial hypertrophic cardiomyopathy 4 not provided Primary familial hypertrophic cardiomyopathy
Variation	info
Gene	MYBPC3
CLNDBN	Familial hypertrophic cardiomyopathy 4 not provided Primary familial hypertrophic cardiomyopathy
Reversed	1
HGVS	NC_000011.9:g.47354789C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000009147.5, RCV000158223.4, RCV000211819.1,