rs121909522

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

229432393

Gene

ACTA1

is a	snp
is	mentioned by
dbSNP	rs121909522
dbSNP (classic)	rs121909522
ClinGen	rs121909522
ebi	rs121909522
HLI	rs121909522
Exac	rs121909522
Gnomad	rs121909522
Varsome	rs121909522
LitVar	rs121909522
Map	rs121909522
PheGenI	rs121909522
Biobank	rs121909522
1000 genomes	rs121909522
hgdp	rs121909522
ensembl	rs121909522
geneview	rs121909522
scholar	rs121909522
google	rs121909522
pharmgkb	rs121909522
gwascentral	rs121909522
openSNP	rs121909522
23andMe	rs121909522
SNPshot	rs121909522
SNPdbe	rs121909522
MSV3d	rs121909522
GWAS Ctlg	rs121909522

Merged from

Rs121909532

Max Magnitude

4

OMIM	102610
Desc
Variant	0004
Related	also

ClinVar
Risk	rs121909522(A;A) Rs121909522(T;T)
Alt	rs121909522(A;A) Rs121909522(T;T)
Reference	Rs121909522(G;G)
Significance	Pathogenic
Disease	Nemaline myopathy 3
Variation	info
Gene	ACTA1
CLNDBN	Nemaline myopathy 3
Reversed	1
HGVS	NC_000001.10:g.229568140C>A; NC_000001.10:g.229568140C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019944.30, RCV000019954.29,