rs878854374

Orientation

minus

Stabilized

minus

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

Make rs878854374(A;G)

Make rs878854374(G;G)

Reference

GRCh38.p2 38.2/147

Chromosome

1

Position

229431788

Gene

ACTA1

is a	snp
is	mentioned by
dbSNP	rs878854374
dbSNP (classic)	rs878854374
ClinGen	rs878854374
ebi	rs878854374
HLI	rs878854374
Exac	rs878854374
Gnomad	rs878854374
Varsome	rs878854374
LitVar	rs878854374
Map	rs878854374
PheGenI	rs878854374
Biobank	rs878854374
1000 genomes	rs878854374
hgdp	rs878854374
ensembl	rs878854374
geneview	rs878854374
scholar	rs878854374
google	rs878854374
pharmgkb	rs878854374
gwascentral	rs878854374
openSNP	rs878854374
23andMe	rs878854374
SNPshot	rs878854374
SNPdbe	rs878854374
MSV3d	rs878854374
GWAS Ctlg	rs878854374

Max Magnitude

0

ClinVar
Risk	rs878854374(G;G)
Alt	rs878854374(G;G)
Reference	Rs878854374(A;A)
Significance	Probable-Pathogenic
Disease	Nemaline myopathy 3
Variation	info
Gene	ACTA1
CLNDBN	Nemaline myopathy 3
Reversed	1
HGVS	NC_000001.10:g.229567535T>C
CLNSRC
CLNACC	RCV000228987.1,