rs587780271

Orientation

minus

Stabilized

minus

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

Make rs587780271(A;A)

Make rs587780271(A;T)

Reference

GRCh38.p2 38.2/144

Chromosome

1

Position

229432597

Gene

ACTA1

is a	snp
is	mentioned by
dbSNP	rs587780271
dbSNP (classic)	rs587780271
ClinGen	rs587780271
ebi	rs587780271
HLI	rs587780271
Exac	rs587780271
Gnomad	rs587780271
Varsome	rs587780271
LitVar	rs587780271
Map	rs587780271
PheGenI	rs587780271
Biobank	rs587780271
1000 genomes	rs587780271
hgdp	rs587780271
ensembl	rs587780271
geneview	rs587780271
scholar	rs587780271
google	rs587780271
pharmgkb	rs587780271
gwascentral	rs587780271
openSNP	rs587780271
23andMe	rs587780271
SNPshot	rs587780271
SNPdbe	rs587780271
MSV3d	rs587780271
GWAS Ctlg	rs587780271

Max Magnitude

0

ClinVar
Risk	rs587780271(A;A)
Alt	rs587780271(A;A)
Reference	Rs587780271(T;T)
Significance	Probable-Pathogenic
Disease	Nemaline myopathy 3
Variation	info
Gene	ACTA1
CLNDBN	Nemaline myopathy 3, autosomal dominant or recessive
Reversed	1
HGVS	NC_000001.10:g.229568344A>T
CLNSRC
CLNACC	RCV000116220.1,