rs367543050

Orientation

minus

Stabilized

minus

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

Make rs367543050(C;C)

Make rs367543050(C;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

229432181

Gene

ACTA1

is a	snp
is	mentioned by
dbSNP	rs367543050
dbSNP (classic)	rs367543050
ClinGen	rs367543050
ebi	rs367543050
HLI	rs367543050
Exac	rs367543050
Gnomad	rs367543050
Varsome	rs367543050
LitVar	rs367543050
Map	rs367543050
PheGenI	rs367543050
Biobank	rs367543050
1000 genomes	rs367543050
hgdp	rs367543050
ensembl	rs367543050
geneview	rs367543050
scholar	rs367543050
google	rs367543050
pharmgkb	rs367543050
gwascentral	rs367543050
openSNP	rs367543050
23andMe	rs367543050
SNPshot	rs367543050
SNPdbe	rs367543050
MSV3d	rs367543050
GWAS Ctlg	rs367543050

Max Magnitude

0

ClinVar
Risk	rs367543050(C;C)
Alt	rs367543050(C;C)
Reference	Rs367543050(G;G)
Significance	Pathogenic
Disease	Congenital myopathy with fiber type disproportion
Variation	info
Gene	ACTA1
CLNDBN	Congenital myopathy with fiber type disproportion
Reversed	1
HGVS	NC_000001.10:g.229567928C>G
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000034935.1,

[PMID 15468086] Actin mutations are one cause of congenital fibre type disproportion.