rs727504407

Orientation

minus

Stabilized

minus

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

Make rs727504407(C;G)

Make rs727504407(G;G)

Reference

GRCh38.p2 38.2/144

Chromosome

14

Position

23424137

Gene

MYH7

is a	snp
is	mentioned by
dbSNP	rs727504407
dbSNP (classic)	rs727504407
ClinGen	rs727504407
ebi	rs727504407
HLI	rs727504407
Exac	rs727504407
Gnomad	rs727504407
Varsome	rs727504407
LitVar	rs727504407
Map	rs727504407
PheGenI	rs727504407
Biobank	rs727504407
1000 genomes	rs727504407
hgdp	rs727504407
ensembl	rs727504407
geneview	rs727504407
scholar	rs727504407
google	rs727504407
pharmgkb	rs727504407
gwascentral	rs727504407
openSNP	rs727504407
23andMe	rs727504407
SNPshot	rs727504407
SNPdbe	rs727504407
MSV3d	rs727504407
GWAS Ctlg	rs727504407

Max Magnitude

0

ClinVar
Risk	rs727504407(G;G) rs727504407(T;T)
Alt	rs727504407(G;G) rs727504407(T;T)
Reference	Rs727504407(C;C)
Significance	Probable-Pathogenic
Disease	Laing distal myopathy Scapuloperoneal myopathy Hypertrophic cardiomyopathy Dilated Cardiomyopathy Left ventricular noncompaction cardiomyopathy Myosin storage myopathy not specified
Variation	info
Gene	MYH7
CLNDBN	Laing distal myopathy Scapuloperoneal myopathy Hypertrophic cardiomyopathy Dilated Cardiomyopathy, Dominant Left ventricular noncompaction cardiomyopathy Myosin storage myopathy not specified
Reversed	1
HGVS	NC_000014.8:g.23893346G>A; NC_000014.8:g.23893346G>C
CLNSRC
CLNACC	RCV000261564.1, RCV000286416.1, RCV000315717.1, RCV000321468.1, RCV000374938.1, RCV000376304.1, RCV000154590.2,