rs730880824

Orientation

minus

Stabilized

minus

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

Make rs730880824(A;G)

Make rs730880824(G;G)

Reference

GRCh38.p2 38.2/144

Chromosome

14

Position

23414056

Gene	MHRT, MYH7

is a	snp
is	mentioned by
dbSNP	rs730880824
dbSNP (classic)	rs730880824
ClinGen	rs730880824
ebi	rs730880824
HLI	rs730880824
Exac	rs730880824
Gnomad	rs730880824
Varsome	rs730880824
LitVar	rs730880824
Map	rs730880824
PheGenI	rs730880824
Biobank	rs730880824
1000 genomes	rs730880824
hgdp	rs730880824
ensembl	rs730880824
geneview	rs730880824
scholar	rs730880824
google	rs730880824
pharmgkb	rs730880824
gwascentral	rs730880824
openSNP	rs730880824
23andMe	rs730880824
SNPshot	rs730880824
SNPdbe	rs730880824
MSV3d	rs730880824
GWAS Ctlg	rs730880824

Max Magnitude

0

ClinVar
Risk	rs730880824(G;G)
Alt	rs730880824(G;G)
Reference	Rs730880824(A;A)
Significance	Probable-Pathogenic
Disease	not provided not specified Scapuloperoneal myopathy Left ventricular noncompaction cardiomyopathy Dilated Cardiomyopathy Myosin storage myopathy Hypertrophic cardiomyopathy Laing distal myopathy
Variation	info
Gene	MYH7 MHRT
CLNDBN	not provided not specified Scapuloperoneal myopathy Left ventricular noncompaction cardiomyopathy Dilated Cardiomyopathy, Dominant Myosin storage myopathy Hypertrophic cardiomyopathy Laing distal myopathy
Reversed	1
HGVS	NC_000014.8:g.23883265T>C
CLNSRC	Children's Hospital of Eastern Ontario
CLNACC	RCV000158712.1, RCV000168920.2, RCV000284161.1, RCV000290558.1, RCV000329194.1, RCV000341468.1, RCV000376895.1, RCV000379698.1,