rs267606627

Orientation

minus

Stabilized

minus

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

Make rs267606627(C;T)

Make rs267606627(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

229432787

Gene

ACTA1

is a	snp
is	mentioned by
dbSNP	rs267606627
dbSNP (classic)	rs267606627
ClinGen	rs267606627
ebi	rs267606627
HLI	rs267606627
Exac	rs267606627
Gnomad	rs267606627
Varsome	rs267606627
LitVar	rs267606627
Map	rs267606627
PheGenI	rs267606627
Biobank	rs267606627
1000 genomes	rs267606627
hgdp	rs267606627
ensembl	rs267606627
geneview	rs267606627
scholar	rs267606627
google	rs267606627
pharmgkb	rs267606627
gwascentral	rs267606627
openSNP	rs267606627
23andMe	rs267606627
SNPshot	rs267606627
SNPdbe	rs267606627
MSV3d	rs267606627
GWAS Ctlg	rs267606627

Max Magnitude

0

ClinVar
Risk	rs267606627(A;A) rs267606627(T;T)
Alt	rs267606627(A;A) rs267606627(T;T)
Reference	Rs267606627(C;C)
Significance	Pathogenic
Disease	Nemaline myopathy 3
Variation	info
Gene	ACTA1
CLNDBN	Nemaline myopathy 3
Reversed	1
HGVS	NC_000001.10:g.229568534G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000019955.28,