rs886043521

Orientation

plus

Stabilized

plus

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

Chromosome

21

Position

45998951

Gene

COL6A1

is a	snp
is	mentioned by
dbSNP	rs886043521
dbSNP (classic)	rs886043521
ClinGen	rs886043521
ebi	rs886043521
HLI	rs886043521
Exac	rs886043521
Gnomad	rs886043521
Varsome	rs886043521
LitVar	rs886043521
Map	rs886043521
PheGenI	rs886043521
Biobank	rs886043521
1000 genomes	rs886043521
hgdp	rs886043521
ensembl	rs886043521
geneview	rs886043521
scholar	rs886043521
google	rs886043521
pharmgkb	rs886043521
gwascentral	rs886043521
openSNP	rs886043521
23andMe	rs886043521
SNPshot	rs886043521
SNPdbe	rs886043521
MSV3d	rs886043521
GWAS Ctlg	rs886043521

Max Magnitude

0

ClinVar
Risk	rs886043521(A;A)
Alt	rs886043521(A;A)
Reference	Rs886043521(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.47418865G>A
CLNSRC
CLNACC	RCV000260990.1, RCV000316226.1,