rs587777354

Orientation

plus

Stabilized

minus

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

Make rs587777354(A;A)

Make rs587777354(A;C)

Reference

GRCh38 38.1/142

Chromosome

1

Position

229431559

Gene

ACTA1

is a	snp
is	mentioned by
dbSNP	rs587777354
dbSNP (classic)	rs587777354
ClinGen	rs587777354
ebi	rs587777354
HLI	rs587777354
Exac	rs587777354
Gnomad	rs587777354
Varsome	rs587777354
LitVar	rs587777354
Map	rs587777354
PheGenI	rs587777354
Biobank	rs587777354
1000 genomes	rs587777354
hgdp	rs587777354
ensembl	rs587777354
geneview	rs587777354
scholar	rs587777354
google	rs587777354
pharmgkb	rs587777354
gwascentral	rs587777354
openSNP	rs587777354
23andMe	rs587777354
SNPshot	rs587777354
SNPdbe	rs587777354
MSV3d	rs587777354
GWAS Ctlg	rs587777354

Max Magnitude

0

ClinVar
Risk	rs587777354(A;A) Rs587777354(C;C)
Alt	rs587777354(A;A) Rs587777354(C;C)
Reference	Rs587777354(G;G)
Significance	Pathogenic
Disease	Nemaline myopathy 3
Variation	info
Gene	ACTA1
CLNDBN	Nemaline myopathy 3
Reversed	1
HGVS	NC_000001.10:g.229567306C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000115017.3,