rs121913654

Orientation

minus

Stabilized

minus

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

Make rs121913654(C;C)

Reference

GRCh38 38.1/141

Chromosome

14

Position

23415176

Gene	MHRT, MYH7

is a	snp
is	mentioned by
dbSNP	rs121913654
dbSNP (classic)	rs121913654
ClinGen	rs121913654
ebi	rs121913654
HLI	rs121913654
Exac	rs121913654
Gnomad	rs121913654
Varsome	rs121913654
LitVar	rs121913654
Map	rs121913654
PheGenI	rs121913654
Biobank	rs121913654
1000 genomes	rs121913654
hgdp	rs121913654
ensembl	rs121913654
geneview	rs121913654
scholar	rs121913654
google	rs121913654
pharmgkb	rs121913654
gwascentral	rs121913654
openSNP	rs121913654
23andMe	rs121913654
SNPshot	rs121913654
SNPdbe	rs121913654
MSV3d	rs121913654
GWAS Ctlg	rs121913654

Max Magnitude

6.2

OMIM	160760
Desc
Variant	0037
Related	also

ClinVar
Risk	rs121913654(C;C)
Alt	rs121913654(C;C)
Reference	Rs121913654(T;T)
Significance	Other
Disease	Myosin storage myopathy Familial hypertrophic cardiomyopathy 1 Left ventricular noncompaction 5 not provided
Variation	info
Gene	MYH7 MHRT
CLNDBN	Myosin storage myopathy Familial hypertrophic cardiomyopathy 1 Left ventricular noncompaction 5 not provided
Reversed	1
HGVS	NC_000014.8:g.23884385A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015181.27, RCV000015182.27, RCV000015183.27, RCV000158696.1,