rs886043106

Orientation

plus

Stabilized

plus

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

Chromosome

21

Position

45989112

Gene

COL6A1

is a	snp
is	mentioned by
dbSNP	rs886043106
dbSNP (classic)	rs886043106
ClinGen	rs886043106
ebi	rs886043106
HLI	rs886043106
Exac	rs886043106
Gnomad	rs886043106
Varsome	rs886043106
LitVar	rs886043106
Map	rs886043106
PheGenI	rs886043106
Biobank	rs886043106
1000 genomes	rs886043106
hgdp	rs886043106
ensembl	rs886043106
geneview	rs886043106
scholar	rs886043106
google	rs886043106
pharmgkb	rs886043106
gwascentral	rs886043106
openSNP	rs886043106
23andMe	rs886043106
SNPshot	rs886043106
SNPdbe	rs886043106
MSV3d	rs886043106
GWAS Ctlg	rs886043106

Max Magnitude

0

ClinVar
Risk	rs886043106(A;A)
Alt	rs886043106(A;A)
Reference	Rs886043106(G;G)
Significance	Probable-Pathogenic
Disease	Ullrich congenital muscular dystrophy 1 Bethlem myopathy 1
Variation	info
Gene	COL6A1
CLNDBN	Ullrich congenital muscular dystrophy 1 Bethlem myopathy 1
Reversed	0
HGVS	NC_000021.8:g.47409026G>A
CLNSRC
CLNACC	RCV000307385.1, RCV000401877.1,