rs886043351

Orientation

plus

Stabilized

plus

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

Chromosome

21

Position

45987638

Gene

COL6A1

is a	snp
is	mentioned by
dbSNP	rs886043351
dbSNP (classic)	rs886043351
ClinGen	rs886043351
ebi	rs886043351
HLI	rs886043351
Exac	rs886043351
Gnomad	rs886043351
Varsome	rs886043351
LitVar	rs886043351
Map	rs886043351
PheGenI	rs886043351
Biobank	rs886043351
1000 genomes	rs886043351
hgdp	rs886043351
ensembl	rs886043351
geneview	rs886043351
scholar	rs886043351
google	rs886043351
pharmgkb	rs886043351
gwascentral	rs886043351
openSNP	rs886043351
23andMe	rs886043351
SNPshot	rs886043351
SNPdbe	rs886043351
MSV3d	rs886043351
GWAS Ctlg	rs886043351

Max Magnitude

0

ClinVar
Risk	rs886043351(A;A)
Alt	rs886043351(A;A)
Reference	Rs886043351(G;G)
Significance	Probable-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.47407552G>A
CLNSRC
CLNACC	RCV000302236.1, RCV000361616.1,