rs886043576

Orientation

plus

Stabilized

plus

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

Chromosome

2

Position

237348653

Gene

COL6A3

is a	snp
is	mentioned by
dbSNP	rs886043576
dbSNP (classic)	rs886043576
ClinGen	rs886043576
ebi	rs886043576
HLI	rs886043576
Exac	rs886043576
Gnomad	rs886043576
Varsome	rs886043576
LitVar	rs886043576
Map	rs886043576
PheGenI	rs886043576
Biobank	rs886043576
1000 genomes	rs886043576
hgdp	rs886043576
ensembl	rs886043576
geneview	rs886043576
scholar	rs886043576
google	rs886043576
pharmgkb	rs886043576
gwascentral	rs886043576
openSNP	rs886043576
23andMe	rs886043576
SNPshot	rs886043576
SNPdbe	rs886043576
MSV3d	rs886043576
GWAS Ctlg	rs886043576

Max Magnitude

0

ClinVar
Risk	rs886043576(G;G)
Alt	rs886043576(G;G)
Reference	Rs886043576(C;C)
Significance	Probable-Pathogenic
Disease	Ullrich congenital muscular dystrophy 1 Bethlem myopathy 1
Variation	info
Gene	COL6A3
CLNDBN	Ullrich congenital muscular dystrophy 1 Bethlem myopathy 1
Reversed	0
HGVS	NC_000002.11:g.238257296C>G
CLNSRC
CLNACC	RCV000273885.1, RCV000366030.1,