rs886044231

Orientation

plus

Stabilized

plus

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

Chromosome

21

Position

45990259

Gene

COL6A1

is a	snp
is	mentioned by
dbSNP	rs886044231
dbSNP (classic)	rs886044231
ClinGen	rs886044231
ebi	rs886044231
HLI	rs886044231
Exac	rs886044231
Gnomad	rs886044231
Varsome	rs886044231
LitVar	rs886044231
Map	rs886044231
PheGenI	rs886044231
Biobank	rs886044231
1000 genomes	rs886044231
hgdp	rs886044231
ensembl	rs886044231
geneview	rs886044231
scholar	rs886044231
google	rs886044231
pharmgkb	rs886044231
gwascentral	rs886044231
openSNP	rs886044231
23andMe	rs886044231
SNPshot	rs886044231
SNPdbe	rs886044231
MSV3d	rs886044231
GWAS Ctlg	rs886044231

Max Magnitude

0

ClinVar
Risk	rs886044231(A;A)
Alt	rs886044231(A;A)
Reference	Rs886044231(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.47410173G>A
CLNSRC
CLNACC	RCV000272095.1, RCV000322426.1,