rs112738974

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;G)	6	Familial hypertrophic cardiomyopathy (possible)

Make rs112738974(G;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

47338519

Gene

MYBPC3

is a	snp
is	mentioned by
dbSNP	rs112738974
dbSNP (classic)	rs112738974
ClinGen	rs112738974
ebi	rs112738974
HLI	rs112738974
Exac	rs112738974
Gnomad	rs112738974
Varsome	rs112738974
LitVar	rs112738974
Map	rs112738974
PheGenI	rs112738974
Biobank	rs112738974
1000 genomes	rs112738974
hgdp	rs112738974
ensembl	rs112738974
geneview	rs112738974
scholar	rs112738974
google	rs112738974
pharmgkb	rs112738974
gwascentral	rs112738974
openSNP	rs112738974
23andMe	rs112738974
SNPshot	rs112738974
SNPdbe	rs112738974
MSV3d	rs112738974
GWAS Ctlg	rs112738974

Max Magnitude

6

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	rs112738974(A;A) rs112738974(G;G) rs112738974(T;T)
Alt	rs112738974(A;A) rs112738974(G;G) rs112738974(T;T)
Reference	Rs112738974(C;C)
Significance	Pathogenic
Disease	Primary familial hypertrophic cardiomyopathy not provided Hypertrophic cardiomyopathy Familial hypertrophic cardiomyopathy 4
Variation	info
Gene	MYBPC3
CLNDBN	Primary familial hypertrophic cardiomyopathy not provided Hypertrophic cardiomyopathy Familial hypertrophic cardiomyopathy 4
Reversed	0
HGVS	NC_000011.9:g.47360070C>A; NC_000011.9:g.47360070C>T
CLNSRC	MYBPC3 homepage - Leiden Muscular Dystrophy pages OMIM Allelic Variant
CLNACC	RCV000035479.2, RCV000158148.2, RCV000230791.1, RCV000009140.3, RCV000035478.5, RCV000158147.3, RCV000473746.1,