rs398123639

Orientation

plus

Stabilized

plus

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

Make rs398123639(A;G)

Make rs398123639(G;G)

Reference

GRCh38 38.1/141

Chromosome

21

Position

45989082

Gene

COL6A1

is a	snp
is	mentioned by
dbSNP	rs398123639
dbSNP (classic)	rs398123639
ClinGen	rs398123639
ebi	rs398123639
HLI	rs398123639
Exac	rs398123639
Gnomad	rs398123639
Varsome	rs398123639
LitVar	rs398123639
Map	rs398123639
PheGenI	rs398123639
Biobank	rs398123639
1000 genomes	rs398123639
hgdp	rs398123639
ensembl	rs398123639
geneview	rs398123639
scholar	rs398123639
google	rs398123639
pharmgkb	rs398123639
gwascentral	rs398123639
openSNP	rs398123639
23andMe	rs398123639
SNPshot	rs398123639
SNPdbe	rs398123639
MSV3d	rs398123639
GWAS Ctlg	rs398123639

Max Magnitude

0

ClinVar
Risk	rs398123639(G;G)
Alt	rs398123639(G;G)
Reference	Rs398123639(A;A)
Significance	Pathogenic
Disease	not provided Ullrich congenital muscular dystrophy 1 Bethlem myopathy 1
Variation	info
Gene	COL6A1
CLNDBN	not provided Ullrich congenital muscular dystrophy 1 Bethlem myopathy 1
Reversed	0
HGVS	NC_000021.8:g.47408996A>G
CLNSRC	ClinVar
CLNACC	RCV000079826.3, RCV000180575.1, RCV000180576.1,