rs397516253

Orientation

minus

Stabilized

minus

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

Make rs397516253(C;C)

Reference

GRCh38 38.1/141

Chromosome

14

Position

23413823

Gene	MHRT, MYH7

is a	snp
is	mentioned by
dbSNP	rs397516253
dbSNP (classic)	rs397516253
ClinGen	rs397516253
ebi	rs397516253
HLI	rs397516253
Exac	rs397516253
Gnomad	rs397516253
Varsome	rs397516253
LitVar	rs397516253
Map	rs397516253
PheGenI	rs397516253
Biobank	rs397516253
1000 genomes	rs397516253
hgdp	rs397516253
ensembl	rs397516253
geneview	rs397516253
scholar	rs397516253
google	rs397516253
pharmgkb	rs397516253
gwascentral	rs397516253
openSNP	rs397516253
23andMe	rs397516253
SNPshot	rs397516253
SNPdbe	rs397516253
MSV3d	rs397516253
GWAS Ctlg	rs397516253

Max Magnitude

6.2

ClinVar
Risk	rs397516253(A;A) rs397516253(C;C)
Alt	rs397516253(A;A) rs397516253(C;C)
Reference	Rs397516253(G;G)
Significance	Probable-Pathogenic
Disease	Primary dilated cardiomyopathy not specified Scapuloperoneal myopathy Hypertrophic cardiomyopathy Left ventricular noncompaction cardiomyopathy Dilated Cardiomyopathy Laing distal myopathy Myosin storage myopathy
Variation	info
Gene	MYH7 MHRT
CLNDBN	Primary dilated cardiomyopathy not specified Scapuloperoneal myopathy Hypertrophic cardiomyopathy Left ventricular noncompaction cardiomyopathy Dilated Cardiomyopathy, Dominant Laing distal myopathy Myosin storage myopathy
Reversed	1
HGVS	NC_000014.8:g.23883032C>G; NC_000014.8:g.23883032C>T
CLNSRC	ClinVar
CLNACC	RCV000035980.3, RCV000158715.2, RCV000287507.1, RCV000291022.1, RCV000339405.1, RCV000344866.1, RCV000388944.1, RCV000407464.1,