rs121909527

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

229433109

Gene

ACTA1

is a	snp
is	mentioned by
dbSNP	rs121909527
dbSNP (classic)	rs121909527
ClinGen	rs121909527
ebi	rs121909527
HLI	rs121909527
Exac	rs121909527
Gnomad	rs121909527
Varsome	rs121909527
LitVar	rs121909527
Map	rs121909527
PheGenI	rs121909527
Biobank	rs121909527
1000 genomes	rs121909527
hgdp	rs121909527
ensembl	rs121909527
geneview	rs121909527
scholar	rs121909527
google	rs121909527
pharmgkb	rs121909527
gwascentral	rs121909527
openSNP	rs121909527
23andMe	rs121909527
SNPshot	rs121909527
SNPdbe	rs121909527
MSV3d	rs121909527
GWAS Ctlg	rs121909527

Max Magnitude

4

OMIM	102610
Desc
Variant	0009
Related	also

ClinVar
Risk	Rs121909527(T;T)
Alt	Rs121909527(T;T)
Reference	Rs121909527(G;G)
Significance	Pathogenic
Disease	Myopathy
Variation	info
Gene	ACTA1
CLNDBN	Myopathy, actin, congenital, with cores
Reversed	1
HGVS	NC_000001.10:g.229568856C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019949.29,