rs886043114

Orientation

plus

Stabilized

plus

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

Chromosome

21

Position

45989776

Gene

COL6A1

is a	snp
is	mentioned by
dbSNP	rs886043114
dbSNP (classic)	rs886043114
ClinGen	rs886043114
ebi	rs886043114
HLI	rs886043114
Exac	rs886043114
Gnomad	rs886043114
Varsome	rs886043114
LitVar	rs886043114
Map	rs886043114
PheGenI	rs886043114
Biobank	rs886043114
1000 genomes	rs886043114
hgdp	rs886043114
ensembl	rs886043114
geneview	rs886043114
scholar	rs886043114
google	rs886043114
pharmgkb	rs886043114
gwascentral	rs886043114
openSNP	rs886043114
23andMe	rs886043114
SNPshot	rs886043114
SNPdbe	rs886043114
MSV3d	rs886043114
GWAS Ctlg	rs886043114

Max Magnitude

0

ClinVar
Risk	rs886043114(-;-)
Alt	rs886043114(-;-)
Reference	Rs886043114(AGA;AGA)
Significance	Pathogenic
Disease	Bethlem myopathy 1 Ullrich congenital muscular dystrophy 1 not provided
Variation	info
Gene	COL6A1
CLNDBN	Bethlem myopathy 1 Ullrich congenital muscular dystrophy 1 not provided
Reversed	0
HGVS	NC_000021.8:g.47409690_47409692delAAG
CLNSRC
CLNACC	RCV000295345.1, RCV000336257.1, RCV000484105.1,