rs1057519311

Orientation

minus

Stabilized

minus

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

Make rs1057519311(C;T)

Make rs1057519311(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

1

Position

229432365

Gene

ACTA1

is a	snp
is	mentioned by
dbSNP	rs1057519311
dbSNP (classic)	rs1057519311
ClinGen	rs1057519311
ebi	rs1057519311
HLI	rs1057519311
Exac	rs1057519311
Gnomad	rs1057519311
Varsome	rs1057519311
LitVar	rs1057519311
Map	rs1057519311
PheGenI	rs1057519311
Biobank	rs1057519311
1000 genomes	rs1057519311
hgdp	rs1057519311
ensembl	rs1057519311
geneview	rs1057519311
scholar	rs1057519311
google	rs1057519311
pharmgkb	rs1057519311
gwascentral	rs1057519311
openSNP	rs1057519311
23andMe	rs1057519311
SNPshot	rs1057519311
SNPdbe	rs1057519311
MSV3d	rs1057519311
GWAS Ctlg	rs1057519311

Max Magnitude

0

ClinVar
Risk	rs1057519311(T;T)
Alt	rs1057519311(T;T)
Reference	Rs1057519311(C;C)
Significance	Probable-Pathogenic
Disease	Nemaline myopathy 3 not specified
Variation	info
Gene	ACTA1
CLNDBN	Nemaline myopathy 3 not specified
Reversed	1
HGVS	NC_000001.10:g.229568112G>A; NC_000001.10:g.229568112G>C
CLNSRC
CLNACC	RCV000415638.1, RCV000493914.1,