rs121909521

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	4	Nemaline Myopathy 3
(C;G)	2	Nemaline Myopathy 3
(G;G)	0	common in clinvar

Reference

GRCh38 38.1/141

Chromosome

1

Position

229433067

Gene

ACTA1

is a	snp
is	mentioned by
dbSNP	rs121909521
dbSNP (classic)	rs121909521
ClinGen	rs121909521
ebi	rs121909521
HLI	rs121909521
Exac	rs121909521
Gnomad	rs121909521
Varsome	rs121909521
LitVar	rs121909521
Map	rs121909521
PheGenI	rs121909521
Biobank	rs121909521
1000 genomes	rs121909521
hgdp	rs121909521
ensembl	rs121909521
geneview	rs121909521
scholar	rs121909521
google	rs121909521
pharmgkb	rs121909521
gwascentral	rs121909521
openSNP	rs121909521
23andMe	rs121909521
SNPshot	rs121909521
SNPdbe	rs121909521
MSV3d	rs121909521
GWAS Ctlg	rs121909521

Max Magnitude

4

OMIM	102610
Desc
Variant	0003
Related	also

ClinVar
Risk	Rs121909521(C;C)
Alt	Rs121909521(C;C)
Reference	Rs121909521(G;G)
Significance	Pathogenic
Disease	Myopathy
Variation	info
Gene	ACTA1
CLNDBN	Myopathy, actin, congenital, with excess of thin myofilaments
Reversed	1
HGVS	NC_000001.10:g.229568814C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019943.30,