rs121913652

Orientation

minus

Stabilized

minus

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

Make rs121913652(A;A)

Make rs121913652(A;G)

Reference

GRCh38 38.1/141

Chromosome

14

Position

23414015

Gene	MHRT, MYH7

is a	snp
is	mentioned by
dbSNP	rs121913652
dbSNP (classic)	rs121913652
ClinGen	rs121913652
ebi	rs121913652
HLI	rs121913652
Exac	rs121913652
Gnomad	rs121913652
Varsome	rs121913652
LitVar	rs121913652
Map	rs121913652
PheGenI	rs121913652
Biobank	rs121913652
1000 genomes	rs121913652
hgdp	rs121913652
ensembl	rs121913652
geneview	rs121913652
scholar	rs121913652
google	rs121913652
pharmgkb	rs121913652
gwascentral	rs121913652
openSNP	rs121913652
23andMe	rs121913652
SNPshot	rs121913652
SNPdbe	rs121913652
MSV3d	rs121913652
GWAS Ctlg	rs121913652

Max Magnitude

0

OMIM	160760
Desc
Variant	0035
Related	also

ClinVar
Risk	rs121913652(A;A)
Alt	rs121913652(A;A)
Reference	Rs121913652(G;G)
Significance	Pathogenic
Disease	Myopathy not specified
Variation	info
Gene	MYH7 MHRT
CLNDBN	Myopathy, myosin storage, autosomal recessive not specified
Reversed	1
HGVS	NC_000014.8:g.23883224C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015178.27, RCV000156689.2,