rs367543048

Orientation

minus

Stabilized

minus

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

Make rs367543048(A;A)

Make rs367543048(A;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

229433100

Gene

ACTA1

is a	snp
is	mentioned by
dbSNP	rs367543048
dbSNP (classic)	rs367543048
ClinGen	rs367543048
ebi	rs367543048
HLI	rs367543048
Exac	rs367543048
Gnomad	rs367543048
Varsome	rs367543048
LitVar	rs367543048
Map	rs367543048
PheGenI	rs367543048
Biobank	rs367543048
1000 genomes	rs367543048
hgdp	rs367543048
ensembl	rs367543048
geneview	rs367543048
scholar	rs367543048
google	rs367543048
pharmgkb	rs367543048
gwascentral	rs367543048
openSNP	rs367543048
23andMe	rs367543048
SNPshot	rs367543048
SNPdbe	rs367543048
MSV3d	rs367543048
GWAS Ctlg	rs367543048

Max Magnitude

0

ClinVar
Risk	rs367543048(A;A) rs367543048(T;T)
Alt	rs367543048(A;A) rs367543048(T;T)
Reference	Rs367543048(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.229568847C>T
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000034934.1,

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