rs398123646

Orientation

plus

Stabilized

plus

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

Make rs398123646(A;A)

Make rs398123646(A;G)

Reference

GRCh38 38.1/141

Chromosome

21

Position

46122107

Gene

COL6A2

is a	snp
is	mentioned by
dbSNP	rs398123646
dbSNP (classic)	rs398123646
ClinGen	rs398123646
ebi	rs398123646
HLI	rs398123646
Exac	rs398123646
Gnomad	rs398123646
Varsome	rs398123646
LitVar	rs398123646
Map	rs398123646
PheGenI	rs398123646
Biobank	rs398123646
1000 genomes	rs398123646
hgdp	rs398123646
ensembl	rs398123646
geneview	rs398123646
scholar	rs398123646
google	rs398123646
pharmgkb	rs398123646
gwascentral	rs398123646
openSNP	rs398123646
23andMe	rs398123646
SNPshot	rs398123646
SNPdbe	rs398123646
MSV3d	rs398123646
GWAS Ctlg	rs398123646

Max Magnitude

0

ClinVar
Risk	rs398123646(A;A)
Alt	rs398123646(A;A)
Reference	Rs398123646(G;G)
Significance	Pathogenic
Disease	not provided Bethlem myopathy 1 Ullrich congenital muscular dystrophy 1
Variation	info
Gene	COL6A2
CLNDBN	not provided Bethlem myopathy 1 Ullrich congenital muscular dystrophy 1
Reversed	0
HGVS	NC_000021.8:g.47542021G>A
CLNSRC	ClinVar
CLNACC	RCV000079848.3, RCV000175421.1, RCV000175422.1,