rs886042856

Orientation

plus

Stabilized

plus

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

Chromosome

21

Position

45989084

Gene

COL6A1

is a	snp
is	mentioned by
dbSNP	rs886042856
dbSNP (classic)	rs886042856
ClinGen	rs886042856
ebi	rs886042856
HLI	rs886042856
Exac	rs886042856
Gnomad	rs886042856
Varsome	rs886042856
LitVar	rs886042856
Map	rs886042856
PheGenI	rs886042856
Biobank	rs886042856
1000 genomes	rs886042856
hgdp	rs886042856
ensembl	rs886042856
geneview	rs886042856
scholar	rs886042856
google	rs886042856
pharmgkb	rs886042856
gwascentral	rs886042856
openSNP	rs886042856
23andMe	rs886042856
SNPshot	rs886042856
SNPdbe	rs886042856
MSV3d	rs886042856
GWAS Ctlg	rs886042856

Max Magnitude

0

ClinVar
Risk	rs886042856(A;A)
Alt	rs886042856(A;A)
Reference	Rs886042856(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.47408998G>A
CLNSRC
CLNACC	RCV000311468.1, RCV000404469.1,