rs768144106

Orientation

plus

Stabilized

plus

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

Make rs768144106(A;A)

Make rs768144106(A;C)

Reference

GRCh38.p2 38.2/147

Chromosome

1

Position

229432426

Gene

ACTA1

is a	snp
is	mentioned by
dbSNP	rs768144106
dbSNP (classic)	rs768144106
ClinGen	rs768144106
ebi	rs768144106
HLI	rs768144106
Exac	rs768144106
Gnomad	rs768144106
Varsome	rs768144106
LitVar	rs768144106
Map	rs768144106
PheGenI	rs768144106
Biobank	rs768144106
1000 genomes	rs768144106
hgdp	rs768144106
ensembl	rs768144106
geneview	rs768144106
scholar	rs768144106
google	rs768144106
pharmgkb	rs768144106
gwascentral	rs768144106
openSNP	rs768144106
23andMe	rs768144106
SNPshot	rs768144106
SNPdbe	rs768144106
MSV3d	rs768144106
GWAS Ctlg	rs768144106

Max Magnitude

0

ClinVar
Risk	rs768144106(A;A) rs768144106(G;G)
Alt	rs768144106(A;A) rs768144106(G;G)
Reference	Rs768144106(C;C)
Significance	Probable-Pathogenic
Disease	Congenital muscular dystrophy with rigid spine
Variation	info
Gene	ACTA1
CLNDBN	Congenital muscular dystrophy with rigid spine
Reversed	0
HGVS	NC_000001.10:g.229568173C>G
CLNSRC
CLNACC	RCV000230128.1,