rs267606626

Orientation

minus

Stabilized

minus

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

Make rs267606626(G;T)

Make rs267606626(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

229432788

Gene

ACTA1

is a	snp
is	mentioned by
dbSNP	rs267606626
dbSNP (classic)	rs267606626
ClinGen	rs267606626
ebi	rs267606626
HLI	rs267606626
Exac	rs267606626
Gnomad	rs267606626
Varsome	rs267606626
LitVar	rs267606626
Map	rs267606626
PheGenI	rs267606626
Biobank	rs267606626
1000 genomes	rs267606626
hgdp	rs267606626
ensembl	rs267606626
geneview	rs267606626
scholar	rs267606626
google	rs267606626
pharmgkb	rs267606626
gwascentral	rs267606626
openSNP	rs267606626
23andMe	rs267606626
SNPshot	rs267606626
SNPdbe	rs267606626
MSV3d	rs267606626
GWAS Ctlg	rs267606626

Max Magnitude

0

ClinVar
Risk	rs267606626(T;T)
Alt	rs267606626(T;T)
Reference	Rs267606626(G;G)
Significance	Pathogenic
Disease	Nemaline myopathy 3
Variation	info
Gene	ACTA1
CLNDBN	Nemaline myopathy 3
Reversed	1
HGVS	NC_000001.10:g.229568535C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000019955.28,