rs121913649

Orientation

minus

Stabilized

minus

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

Make rs121913649(A;T)

Make rs121913649(T;T)

Reference

GRCh38 38.1/141

Chromosome

14

Position

23413847

Gene	MHRT, MYH7

is a	snp
is	mentioned by
dbSNP	rs121913649
dbSNP (classic)	rs121913649
ClinGen	rs121913649
ebi	rs121913649
HLI	rs121913649
Exac	rs121913649
Gnomad	rs121913649
Varsome	rs121913649
LitVar	rs121913649
Map	rs121913649
PheGenI	rs121913649
Biobank	rs121913649
1000 genomes	rs121913649
hgdp	rs121913649
ensembl	rs121913649
geneview	rs121913649
scholar	rs121913649
google	rs121913649
pharmgkb	rs121913649
gwascentral	rs121913649
openSNP	rs121913649
23andMe	rs121913649
SNPshot	rs121913649
SNPdbe	rs121913649
MSV3d	rs121913649
GWAS Ctlg	rs121913649

Max Magnitude

0

OMIM	160760
Desc
Variant	0031
Related	also

ClinVar
Risk	rs121913649(T;T)
Alt	rs121913649(T;T)
Reference	Rs121913649(A;A)
Significance	Pathogenic
Disease	Myosin storage myopathy
Variation	info
Gene	MYH7 MHRT
CLNDBN	Myosin storage myopathy
Reversed	1
HGVS	NC_000014.8:g.23883056T>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015174.27,