rs193922380

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs193922380(C;G)

Make rs193922380(G;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

47335077

Gene

MYBPC3

is a	snp
is	mentioned by
dbSNP	rs193922380
dbSNP (classic)	rs193922380
ClinGen	rs193922380
ebi	rs193922380
HLI	rs193922380
Exac	rs193922380
Gnomad	rs193922380
Varsome	rs193922380
LitVar	rs193922380
Map	rs193922380
PheGenI	rs193922380
Biobank	rs193922380
1000 genomes	rs193922380
hgdp	rs193922380
ensembl	rs193922380
geneview	rs193922380
scholar	rs193922380
google	rs193922380
pharmgkb	rs193922380
gwascentral	rs193922380
openSNP	rs193922380
23andMe	rs193922380
SNPshot	rs193922380
SNPdbe	rs193922380
MSV3d	rs193922380
GWAS Ctlg	rs193922380

Max Magnitude

0

ClinVar
Risk	rs193922380(G;G)
Alt	rs193922380(G;G)
Reference	Rs193922380(C;C)
Significance	Other
Disease	Primary familial hypertrophic cardiomyopathy not specified Hypertrophic cardiomyopathy Left ventricular noncompaction 10 Familial hypertrophic cardiomyopathy 4 not provided
Variation	info
Gene	MYBPC3
CLNDBN	Primary familial hypertrophic cardiomyopathy not specified Hypertrophic cardiomyopathy Left ventricular noncompaction 10 Familial hypertrophic cardiomyopathy 4 not provided
Reversed	1
HGVS	NC_000011.9:g.47356628G>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000030285.4, RCV000035534.7, RCV000229832.2, RCV000415634.1, RCV000415668.1, RCV000487942.1,

[PMID 18957093] Adverse events in families with hypertrophic or dilated cardiomyopathy and mutations in the MYBPC3 gene.

[PMID 20433692] Screening mutations in myosin binding protein C3 gene in a cohort of patients with Hypertrophic Cardiomyopathy.