rs121909525

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

1

Position

229431994

Gene

ACTA1

is a	snp
is	mentioned by
dbSNP	rs121909525
dbSNP (classic)	rs121909525
ClinGen	rs121909525
ebi	rs121909525
HLI	rs121909525
Exac	rs121909525
Gnomad	rs121909525
Varsome	rs121909525
LitVar	rs121909525
Map	rs121909525
PheGenI	rs121909525
Biobank	rs121909525
1000 genomes	rs121909525
hgdp	rs121909525
ensembl	rs121909525
geneview	rs121909525
scholar	rs121909525
google	rs121909525
pharmgkb	rs121909525
gwascentral	rs121909525
openSNP	rs121909525
23andMe	rs121909525
SNPshot	rs121909525
SNPdbe	rs121909525
MSV3d	rs121909525
GWAS Ctlg	rs121909525

Max Magnitude

4

OMIM	102610
Desc
Variant	0007
Related	also

ClinVar
Risk	rs121909525(C;C) Rs121909525(T;T)
Alt	rs121909525(C;C) Rs121909525(T;T)
Reference	Rs121909525(G;G)
Significance	Pathogenic
Disease	Nemaline myopathy 3 Congenital myopathy
Variation	info
Gene	ACTA1
CLNDBN	Nemaline myopathy 3 Congenital myopathy
Reversed	1
HGVS	NC_000001.10:g.229567741C>A; NC_000001.10:g.229567741C>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000019947.29, RCV000217314.1,