rs28933098

Orientation

minus

Stabilized

minus

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

Make rs28933098(C;T)

Make rs28933098(T;T)

Reference

GRCh38 38.1/141

Chromosome

14

Position

23415021

Gene	MHRT, MYH7

is a	snp
is	mentioned by
dbSNP	rs28933098
dbSNP (classic)	rs28933098
ClinGen	rs28933098
ebi	rs28933098
HLI	rs28933098
Exac	rs28933098
Gnomad	rs28933098
Varsome	rs28933098
LitVar	rs28933098
Map	rs28933098
PheGenI	rs28933098
Biobank	rs28933098
1000 genomes	rs28933098
hgdp	rs28933098
ensembl	rs28933098
geneview	rs28933098
scholar	rs28933098
google	rs28933098
pharmgkb	rs28933098
gwascentral	rs28933098
openSNP	rs28933098
23andMe	rs28933098
SNPshot	rs28933098
SNPdbe	rs28933098
MSV3d	rs28933098
GWAS Ctlg	rs28933098

Max Magnitude

0

OMIM	160760
Desc	MYOPATHY, MYOSIN STORAGE
Variant	0028
Related	also

ClinVar
Risk	rs28933098(A;A) rs28933098(T;T)
Alt	rs28933098(A;A) rs28933098(T;T)
Reference	Rs28933098(C;C)
Significance	Pathogenic
Disease	Myosin storage myopathy Scapuloperoneal myopathy
Variation	info
Gene	MYH7 MHRT
CLNDBN	Myosin storage myopathy Scapuloperoneal myopathy, MYH7-related
Reversed	1
HGVS	NC_000014.8:g.23884230G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015170.27, RCV000015171.23,