rs121909526

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

1

Position

229432596

Gene

ACTA1

is a	snp
is	mentioned by
dbSNP	rs121909526
dbSNP (classic)	rs121909526
ClinGen	rs121909526
ebi	rs121909526
HLI	rs121909526
Exac	rs121909526
Gnomad	rs121909526
Varsome	rs121909526
LitVar	rs121909526
Map	rs121909526
PheGenI	rs121909526
Biobank	rs121909526
1000 genomes	rs121909526
hgdp	rs121909526
ensembl	rs121909526
geneview	rs121909526
scholar	rs121909526
google	rs121909526
pharmgkb	rs121909526
gwascentral	rs121909526
openSNP	rs121909526
23andMe	rs121909526
SNPshot	rs121909526
SNPdbe	rs121909526
MSV3d	rs121909526
GWAS Ctlg	rs121909526

Max Magnitude

4

OMIM	102610
Desc
Variant	0008
Related	also

ClinVar
Risk	Rs121909526(G;G)
Alt	Rs121909526(G;G)
Reference	Rs121909526(C;C)
Significance	Pathogenic
Disease	Nemaline myopathy 3
Variation	info
Gene	ACTA1
CLNDBN	Nemaline myopathy 3
Reversed	1
HGVS	NC_000001.10:g.229568343G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019948.29,