rs730880808

Orientation

minus

Stabilized

minus

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

Make rs730880808(A;A)

Make rs730880808(A;T)

Reference

GRCh38.p2 38.2/144

Chromosome

14

Position

23416185

Gene	MHRT, MYH7

is a	snp
is	mentioned by
dbSNP	rs730880808
dbSNP (classic)	rs730880808
ClinGen	rs730880808
ebi	rs730880808
HLI	rs730880808
Exac	rs730880808
Gnomad	rs730880808
Varsome	rs730880808
LitVar	rs730880808
Map	rs730880808
PheGenI	rs730880808
Biobank	rs730880808
1000 genomes	rs730880808
hgdp	rs730880808
ensembl	rs730880808
geneview	rs730880808
scholar	rs730880808
google	rs730880808
pharmgkb	rs730880808
gwascentral	rs730880808
openSNP	rs730880808
23andMe	rs730880808
SNPshot	rs730880808
SNPdbe	rs730880808
MSV3d	rs730880808
GWAS Ctlg	rs730880808

Max Magnitude

0

ClinVar
Risk	rs730880808(A;A) rs730880808(C;C)
Alt	rs730880808(A;A) rs730880808(C;C)
Reference	Rs730880808(T;T)
Significance	Pathogenic
Disease	Myopathy not provided not specified
Variation	info
Gene	MYH7 MHRT
CLNDBN	Myopathy, distal, 1 not provided not specified
Reversed	1
HGVS	NC_000014.8:g.23885394A>G; NC_000014.8:g.23885394A>T
CLNSRC	Children's Hospital of Eastern Ontario
CLNACC	RCV000192208.1, RCV000484676.1, RCV000168907.2,