rs121909528

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

229431626

Gene

ACTA1

is a	snp
is	mentioned by
dbSNP	rs121909528
dbSNP (classic)	rs121909528
ClinGen	rs121909528
ebi	rs121909528
HLI	rs121909528
Exac	rs121909528
Gnomad	rs121909528
Varsome	rs121909528
LitVar	rs121909528
Map	rs121909528
PheGenI	rs121909528
Biobank	rs121909528
1000 genomes	rs121909528
hgdp	rs121909528
ensembl	rs121909528
geneview	rs121909528
scholar	rs121909528
google	rs121909528
pharmgkb	rs121909528
gwascentral	rs121909528
openSNP	rs121909528
23andMe	rs121909528
SNPshot	rs121909528
SNPdbe	rs121909528
MSV3d	rs121909528
GWAS Ctlg	rs121909528

Max Magnitude

4

OMIM	102610
Desc
Variant	0010
Related	also

ClinVar
Risk	Rs121909528(C;C) rs121909528(G;G)
Alt	Rs121909528(C;C) rs121909528(G;G)
Reference	Rs121909528(A;A)
Significance	Pathogenic
Disease	Myopathy
Variation	info
Gene	ACTA1
CLNDBN	Myopathy, actin, congenital, with cores
Reversed	1
HGVS	NC_000001.10:g.229567373T>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019950.28,