rs886042447

Orientation

plus

Stabilized

plus

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

Chromosome

2

Position

237371893

Gene

COL6A3

is a	snp
is	mentioned by
dbSNP	rs886042447
dbSNP (classic)	rs886042447
ClinGen	rs886042447
ebi	rs886042447
HLI	rs886042447
Exac	rs886042447
Gnomad	rs886042447
Varsome	rs886042447
LitVar	rs886042447
Map	rs886042447
PheGenI	rs886042447
Biobank	rs886042447
1000 genomes	rs886042447
hgdp	rs886042447
ensembl	rs886042447
geneview	rs886042447
scholar	rs886042447
google	rs886042447
pharmgkb	rs886042447
gwascentral	rs886042447
openSNP	rs886042447
23andMe	rs886042447
SNPshot	rs886042447
SNPdbe	rs886042447
MSV3d	rs886042447
GWAS Ctlg	rs886042447

Max Magnitude

0

ClinVar
Risk	rs886042447(-;-)
Alt	rs886042447(-;-)
Reference	Rs886042447(T;T)
Significance	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.238280536delT
CLNSRC
CLNACC	RCV000274130.1, RCV000365913.1,