rs121909532

Merged into

rs121909522

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

1

Position

229432393

Gene

ACTA1

is a	snp
is	mentioned by
dbSNP	rs121909532
dbSNP (classic)	rs121909532
ClinGen	rs121909532
ebi	rs121909532
HLI	rs121909532
Exac	rs121909532
Gnomad	rs121909532
Varsome	rs121909532
LitVar	rs121909532
Map	rs121909532
PheGenI	rs121909532
Biobank	rs121909532
1000 genomes	rs121909532
hgdp	rs121909532
ensembl	rs121909532
geneview	rs121909532
scholar	rs121909532
google	rs121909532
pharmgkb	rs121909532
gwascentral	rs121909532
openSNP	rs121909532
23andMe	rs121909532
SNPshot	rs121909532
SNPdbe	rs121909532
MSV3d	rs121909532
GWAS Ctlg	rs121909532

Status

Merged into rs121909522

Max Magnitude

4

OMIM	102610
Desc
Variant	0014
Related	also

ClinVar
Risk	Rs121909532(A;A)
Alt	Rs121909532(A;A)
Reference	Rs121909532(G;G)
Significance	Pathogenic
Disease	Nemaline myopathy 3
Variation	info
Gene	ACTA1
CLNDBN	Nemaline myopathy 3
Reversed	1
HGVS	NC_000001.10:g.229568140C>T
CLNSRC	OMIM Allelic Variant
CLNACC	SCV000040252.1,