rs121913653

Orientation

minus

Stabilized

minus

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

Make rs121913653(C;T)

Make rs121913653(T;T)

Reference

GRCh38 38.1/141

Chromosome

14

Position

23429040

Gene

MYH7

is a	snp
is	mentioned by
dbSNP	rs121913653
dbSNP (classic)	rs121913653
ClinGen	rs121913653
ebi	rs121913653
HLI	rs121913653
Exac	rs121913653
Gnomad	rs121913653
Varsome	rs121913653
LitVar	rs121913653
Map	rs121913653
PheGenI	rs121913653
Biobank	rs121913653
1000 genomes	rs121913653
hgdp	rs121913653
ensembl	rs121913653
geneview	rs121913653
scholar	rs121913653
google	rs121913653
pharmgkb	rs121913653
gwascentral	rs121913653
openSNP	rs121913653
23andMe	rs121913653
SNPshot	rs121913653
SNPdbe	rs121913653
MSV3d	rs121913653
GWAS Ctlg	rs121913653

Max Magnitude

0

OMIM	160760
Desc
Variant	0036
Related	also

ClinVar
Risk	rs121913653(T;T)
Alt	rs121913653(T;T)
Reference	Rs121913653(C;C)
Significance	Pathogenic
Disease	Laing distal myopathy not specified Hypertrophic cardiomyopathy Myopathy
Variation	info
Gene	MYH7
CLNDBN	Laing distal myopathy not specified Hypertrophic cardiomyopathy Myopathy, distal, 1
Reversed	1
HGVS	NC_000014.8:g.23898249G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015180.26, RCV000035714.3, RCV000168124.1, RCV000192200.1,