rs869312739

Orientation

minus

Stabilized

minus

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

Make rs869312739(G;T)

Make rs869312739(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

1

Position

229432295

Gene

ACTA1

is a	snp
is	mentioned by
dbSNP	rs869312739
dbSNP (classic)	rs869312739
ClinGen	rs869312739
ebi	rs869312739
HLI	rs869312739
Exac	rs869312739
Gnomad	rs869312739
Varsome	rs869312739
LitVar	rs869312739
Map	rs869312739
PheGenI	rs869312739
Biobank	rs869312739
1000 genomes	rs869312739
hgdp	rs869312739
ensembl	rs869312739
geneview	rs869312739
scholar	rs869312739
google	rs869312739
pharmgkb	rs869312739
gwascentral	rs869312739
openSNP	rs869312739
23andMe	rs869312739
SNPshot	rs869312739
SNPdbe	rs869312739
MSV3d	rs869312739
GWAS Ctlg	rs869312739

Max Magnitude

0

ClinVar
Risk	rs869312739(T;T)
Alt	rs869312739(T;T)
Reference	Rs869312739(G;G)
Significance	Pathogenic
Disease	Myopathy not provided
Variation	info
Gene	ACTA1
CLNDBN	Myopathy, scapulohumeroperoneal not provided
Reversed	1
HGVS	NC_000001.10:g.229568042C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000210030.1, RCV000414423.1,