rs367543049

Orientation

minus

Stabilized

minus

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

Make rs367543049(A;A)

Make rs367543049(A;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

229432867

Gene

ACTA1

is a	snp
is	mentioned by
dbSNP	rs367543049
dbSNP (classic)	rs367543049
ClinGen	rs367543049
ebi	rs367543049
HLI	rs367543049
Exac	rs367543049
Gnomad	rs367543049
Varsome	rs367543049
LitVar	rs367543049
Map	rs367543049
PheGenI	rs367543049
Biobank	rs367543049
1000 genomes	rs367543049
hgdp	rs367543049
ensembl	rs367543049
geneview	rs367543049
scholar	rs367543049
google	rs367543049
pharmgkb	rs367543049
gwascentral	rs367543049
openSNP	rs367543049
23andMe	rs367543049
SNPshot	rs367543049
SNPdbe	rs367543049
MSV3d	rs367543049
GWAS Ctlg	rs367543049

Max Magnitude

0

ClinVar
Risk	rs367543049(A;A)
Alt	rs367543049(A;A)
Reference	Rs367543049(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.229568614C>T
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000034933.1,

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