rs886043321

Orientation

plus

Stabilized

plus

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

Chromosome

21

Position

45990791

Gene

COL6A1

is a	snp
is	mentioned by
dbSNP	rs886043321
dbSNP (classic)	rs886043321
ClinGen	rs886043321
ebi	rs886043321
HLI	rs886043321
Exac	rs886043321
Gnomad	rs886043321
Varsome	rs886043321
LitVar	rs886043321
Map	rs886043321
PheGenI	rs886043321
Biobank	rs886043321
1000 genomes	rs886043321
hgdp	rs886043321
ensembl	rs886043321
geneview	rs886043321
scholar	rs886043321
google	rs886043321
pharmgkb	rs886043321
gwascentral	rs886043321
openSNP	rs886043321
23andMe	rs886043321
SNPshot	rs886043321
SNPdbe	rs886043321
MSV3d	rs886043321
GWAS Ctlg	rs886043321

Max Magnitude

0

ClinVar
Risk	rs886043321(T;T)
Alt	rs886043321(T;T)
Reference	Rs886043321(G;G)
Significance	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.47410705G>T
CLNSRC
CLNACC	RCV000266101.1, RCV000379396.1,