rs886043291

Orientation

plus

Stabilized

plus

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

Chromosome

21

Position

45990809

Gene

COL6A1

is a	snp
is	mentioned by
dbSNP	rs886043291
dbSNP (classic)	rs886043291
ClinGen	rs886043291
ebi	rs886043291
HLI	rs886043291
Exac	rs886043291
Gnomad	rs886043291
Varsome	rs886043291
LitVar	rs886043291
Map	rs886043291
PheGenI	rs886043291
Biobank	rs886043291
1000 genomes	rs886043291
hgdp	rs886043291
ensembl	rs886043291
geneview	rs886043291
scholar	rs886043291
google	rs886043291
pharmgkb	rs886043291
gwascentral	rs886043291
openSNP	rs886043291
23andMe	rs886043291
SNPshot	rs886043291
SNPdbe	rs886043291
MSV3d	rs886043291
GWAS Ctlg	rs886043291

Max Magnitude

0

ClinVar
Risk	rs886043291(-;-)
Alt	rs886043291(-;-)
Reference	Rs886043291(GGCTCGCCCGGGTT;GGCTCGCCCGGGTT)
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.47410723_47410736delGGCTCGCCCGGGTT
CLNSRC
CLNACC	RCV000280661.1, RCV000337926.1,