rs121913647

Orientation

minus

Stabilized

minus

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

Make rs121913647(C;C)

Make rs121913647(C;G)

Reference

GRCh38 38.1/141

Chromosome

14

Position

23417173

Gene	MHRT, MYH7

is a	snp
is	mentioned by
dbSNP	rs121913647
dbSNP (classic)	rs121913647
ClinGen	rs121913647
ebi	rs121913647
HLI	rs121913647
Exac	rs121913647
Gnomad	rs121913647
Varsome	rs121913647
LitVar	rs121913647
Map	rs121913647
PheGenI	rs121913647
Biobank	rs121913647
1000 genomes	rs121913647
hgdp	rs121913647
ensembl	rs121913647
geneview	rs121913647
scholar	rs121913647
google	rs121913647
pharmgkb	rs121913647
gwascentral	rs121913647
openSNP	rs121913647
23andMe	rs121913647
SNPshot	rs121913647
SNPdbe	rs121913647
MSV3d	rs121913647
GWAS Ctlg	rs121913647

GMAF

0.0

Max Magnitude

0

OMIM	160760
Desc
Variant	0029
Related	also

ClinVar
Risk	rs121913647(A;A) rs121913647(C;C) rs121913647(T;T)
Alt	rs121913647(A;A) rs121913647(C;C) rs121913647(T;T)
Reference	Rs121913647(G;G)
Significance	Pathogenic
Disease	Laing distal myopathy Myopathy Primary dilated cardiomyopathy not provided Cardiovascular phenotype
Variation	info
Gene	MYH7 MHRT
CLNDBN	Laing distal myopathy Myopathy, distal, 1 Primary dilated cardiomyopathy not provided Cardiovascular phenotype
Reversed	1
HGVS	NC_000014.8:g.23886382C>G; NC_000014.8:g.23886382C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015172.26, RCV000192201.1, RCV000157364.1, RCV000158660.3, RCV000252808.1,