rs886042646

Orientation

plus

Stabilized

plus

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

Chromosome

21

Position

45990997

Gene

COL6A1

is a	snp
is	mentioned by
dbSNP	rs886042646
dbSNP (classic)	rs886042646
ClinGen	rs886042646
ebi	rs886042646
HLI	rs886042646
Exac	rs886042646
Gnomad	rs886042646
Varsome	rs886042646
LitVar	rs886042646
Map	rs886042646
PheGenI	rs886042646
Biobank	rs886042646
1000 genomes	rs886042646
hgdp	rs886042646
ensembl	rs886042646
geneview	rs886042646
scholar	rs886042646
google	rs886042646
pharmgkb	rs886042646
gwascentral	rs886042646
openSNP	rs886042646
23andMe	rs886042646
SNPshot	rs886042646
SNPdbe	rs886042646
MSV3d	rs886042646
GWAS Ctlg	rs886042646

Max Magnitude

0

ClinVar
Risk	rs886042646(AA;AA)
Alt	rs886042646(AA;AA)
Reference	Rs886042646(GG;GG)
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.47410911_47410912delGGinsAA
CLNSRC
CLNACC	RCV000308381.1, RCV000365334.1,