rs587780272

Orientation

minus

Stabilized

minus

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

Make rs587780272(A;A)

Make rs587780272(A;C)

Reference

GRCh38.p2 38.2/144

Chromosome

1

Position

229432371

Gene

ACTA1

is a	snp
is	mentioned by
dbSNP	rs587780272
dbSNP (classic)	rs587780272
ClinGen	rs587780272
ebi	rs587780272
HLI	rs587780272
Exac	rs587780272
Gnomad	rs587780272
Varsome	rs587780272
LitVar	rs587780272
Map	rs587780272
PheGenI	rs587780272
Biobank	rs587780272
1000 genomes	rs587780272
hgdp	rs587780272
ensembl	rs587780272
geneview	rs587780272
scholar	rs587780272
google	rs587780272
pharmgkb	rs587780272
gwascentral	rs587780272
openSNP	rs587780272
23andMe	rs587780272
SNPshot	rs587780272
SNPdbe	rs587780272
MSV3d	rs587780272
GWAS Ctlg	rs587780272

Max Magnitude

0

ClinVar
Risk	rs587780272(A;A)
Alt	rs587780272(A;A)
Reference	Rs587780272(C;C)
Significance	Pathogenic
Disease	Nemaline myopathy 3
Variation	info
Gene	ACTA1
CLNDBN	Nemaline myopathy 3, autosomal dominant or recessive
Reversed	1
HGVS	NC_000001.10:g.229568118G>T
CLNSRC
CLNACC	RCV000116221.1,