rs121909520

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

1

Position

229432660

Gene

ACTA1

is a	snp
is	mentioned by
dbSNP	rs121909520
dbSNP (classic)	rs121909520
ClinGen	rs121909520
ebi	rs121909520
HLI	rs121909520
Exac	rs121909520
Gnomad	rs121909520
Varsome	rs121909520
LitVar	rs121909520
Map	rs121909520
PheGenI	rs121909520
Biobank	rs121909520
1000 genomes	rs121909520
hgdp	rs121909520
ensembl	rs121909520
geneview	rs121909520
scholar	rs121909520
google	rs121909520
pharmgkb	rs121909520
gwascentral	rs121909520
openSNP	rs121909520
23andMe	rs121909520
SNPshot	rs121909520
SNPdbe	rs121909520
MSV3d	rs121909520
GWAS Ctlg	rs121909520

Max Magnitude

4

OMIM	102610
Desc
Variant	0002
Related	also

ClinVar
Risk	Rs121909520(G;G)
Alt	Rs121909520(G;G)
Reference	Rs121909520(A;A)
Significance	Pathogenic
Disease	Nemaline myopathy 3
Variation	info
Gene	ACTA1
CLNDBN	Nemaline myopathy 3
Reversed	1
HGVS	NC_000001.10:g.229568407T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019942.29,