rs398122936

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs398122936(C;C)

Make rs398122936(C;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

229431727

Gene

ACTA1

is a	snp
is	mentioned by
dbSNP	rs398122936
dbSNP (classic)	rs398122936
ClinGen	rs398122936
ebi	rs398122936
HLI	rs398122936
Exac	rs398122936
Gnomad	rs398122936
Varsome	rs398122936
LitVar	rs398122936
Map	rs398122936
PheGenI	rs398122936
Biobank	rs398122936
1000 genomes	rs398122936
hgdp	rs398122936
ensembl	rs398122936
geneview	rs398122936
scholar	rs398122936
google	rs398122936
pharmgkb	rs398122936
gwascentral	rs398122936
openSNP	rs398122936
23andMe	rs398122936
SNPshot	rs398122936
SNPdbe	rs398122936
MSV3d	rs398122936
GWAS Ctlg	rs398122936

Max Magnitude

0

ClinVar
Risk	rs398122936(C;C)
Alt	rs398122936(C;C)
Reference	Rs398122936(G;G)
Significance	Pathogenic
Disease	Nemaline myopathy 3
Variation	info
Gene	ACTA1
CLNDBN	Nemaline myopathy 3
Reversed	1
HGVS	NC_000001.10:g.229567474C>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000043506.29,