rs121909524

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

1

Position

229431558

Gene

ACTA1

is a	snp
is	mentioned by
dbSNP	rs121909524
dbSNP (classic)	rs121909524
ClinGen	rs121909524
ebi	rs121909524
HLI	rs121909524
Exac	rs121909524
Gnomad	rs121909524
Varsome	rs121909524
LitVar	rs121909524
Map	rs121909524
PheGenI	rs121909524
Biobank	rs121909524
1000 genomes	rs121909524
hgdp	rs121909524
ensembl	rs121909524
geneview	rs121909524
scholar	rs121909524
google	rs121909524
pharmgkb	rs121909524
gwascentral	rs121909524
openSNP	rs121909524
23andMe	rs121909524
SNPshot	rs121909524
SNPdbe	rs121909524
MSV3d	rs121909524
GWAS Ctlg	rs121909524

Max Magnitude

4

OMIM	102610
Desc
Variant	0006
Related	also

ClinVar
Risk	Rs121909524(C;C)
Alt	Rs121909524(C;C)
Reference	Rs121909524(A;A)
Significance	Pathogenic
Disease	Nemaline myopathy 3
Variation	info
Gene	ACTA1
CLNDBN	Nemaline myopathy 3
Reversed	1
HGVS	NC_000001.10:g.229567305T>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019946.29,