rs886043330

Orientation

plus

Stabilized

plus

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

Chromosome

21

Position

45990772

Gene

COL6A1

is a	snp
is	mentioned by
dbSNP	rs886043330
dbSNP (classic)	rs886043330
ClinGen	rs886043330
ebi	rs886043330
HLI	rs886043330
Exac	rs886043330
Gnomad	rs886043330
Varsome	rs886043330
LitVar	rs886043330
Map	rs886043330
PheGenI	rs886043330
Biobank	rs886043330
1000 genomes	rs886043330
hgdp	rs886043330
ensembl	rs886043330
geneview	rs886043330
scholar	rs886043330
google	rs886043330
pharmgkb	rs886043330
gwascentral	rs886043330
openSNP	rs886043330
23andMe	rs886043330
SNPshot	rs886043330
SNPdbe	rs886043330
MSV3d	rs886043330
GWAS Ctlg	rs886043330

Max Magnitude

0

ClinVar
Risk	rs886043330(A;A)
Alt	rs886043330(A;A)
Reference	Rs886043330(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.47410686G>A
CLNSRC
CLNACC	RCV000289219.1, RCV000323658.1,