rs886042354

Orientation

plus

Stabilized

plus

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

Chromosome

21

Position

45990257

Gene

COL6A1

is a	snp
is	mentioned by
dbSNP	rs886042354
dbSNP (classic)	rs886042354
ClinGen	rs886042354
ebi	rs886042354
HLI	rs886042354
Exac	rs886042354
Gnomad	rs886042354
Varsome	rs886042354
LitVar	rs886042354
Map	rs886042354
PheGenI	rs886042354
Biobank	rs886042354
1000 genomes	rs886042354
hgdp	rs886042354
ensembl	rs886042354
geneview	rs886042354
scholar	rs886042354
google	rs886042354
pharmgkb	rs886042354
gwascentral	rs886042354
openSNP	rs886042354
23andMe	rs886042354
SNPshot	rs886042354
SNPdbe	rs886042354
MSV3d	rs886042354
GWAS Ctlg	rs886042354

Max Magnitude

0

ClinVar
Risk	rs886042354(A;A) rs886042354(C;C)
Alt	rs886042354(A;A) rs886042354(C;C)
Reference	Rs886042354(G;G)
Significance	Pathogenic
Disease	Bethlem myopathy 1 Ullrich congenital muscular dystrophy 1
Variation	info
Gene	COL6A1
CLNDBN	Bethlem myopathy 1 Ullrich congenital muscular dystrophy 1
Reversed	0
HGVS	NC_000021.8:g.47410171G>A; NC_000021.8:g.47410171G>C
CLNSRC
CLNACC	RCV000275818.1, RCV000312142.1, RCV000367488.1,