rs367543051

Orientation

minus

Stabilized

minus

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

Make rs367543051(A;A)

Make rs367543051(A;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

229432075

Gene

ACTA1

is a	snp
is	mentioned by
dbSNP	rs367543051
dbSNP (classic)	rs367543051
ClinGen	rs367543051
ebi	rs367543051
HLI	rs367543051
Exac	rs367543051
Gnomad	rs367543051
Varsome	rs367543051
LitVar	rs367543051
Map	rs367543051
PheGenI	rs367543051
Biobank	rs367543051
1000 genomes	rs367543051
hgdp	rs367543051
ensembl	rs367543051
geneview	rs367543051
scholar	rs367543051
google	rs367543051
pharmgkb	rs367543051
gwascentral	rs367543051
openSNP	rs367543051
23andMe	rs367543051
SNPshot	rs367543051
SNPdbe	rs367543051
MSV3d	rs367543051
GWAS Ctlg	rs367543051

Max Magnitude

0

ClinVar
Risk	rs367543051(A;A)
Alt	rs367543051(A;A)
Reference	Rs367543051(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.229567822C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000034936.1,

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