rs886042902

Orientation

plus

Stabilized

plus

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

Chromosome

21

Position

45989779

Gene

COL6A1

is a	snp
is	mentioned by
dbSNP	rs886042902
dbSNP (classic)	rs886042902
ClinGen	rs886042902
ebi	rs886042902
HLI	rs886042902
Exac	rs886042902
Gnomad	rs886042902
Varsome	rs886042902
LitVar	rs886042902
Map	rs886042902
PheGenI	rs886042902
Biobank	rs886042902
1000 genomes	rs886042902
hgdp	rs886042902
ensembl	rs886042902
geneview	rs886042902
scholar	rs886042902
google	rs886042902
pharmgkb	rs886042902
gwascentral	rs886042902
openSNP	rs886042902
23andMe	rs886042902
SNPshot	rs886042902
SNPdbe	rs886042902
MSV3d	rs886042902
GWAS Ctlg	rs886042902

Max Magnitude

0

ClinVar
Risk	rs886042902(A;A)
Alt	rs886042902(A;A)
Reference	Rs886042902(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.47409693G>A
CLNSRC
CLNACC	RCV000341706.1, RCV000377743.1,