rs398123643

Orientation

plus

Stabilized

plus

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

Make rs398123643(A;A)

Make rs398123643(A;G)

Reference

GRCh38 38.1/141

Chromosome

21

Position

45989626

Gene

COL6A1

is a	snp
is	mentioned by
dbSNP	rs398123643
dbSNP (classic)	rs398123643
ClinGen	rs398123643
ebi	rs398123643
HLI	rs398123643
Exac	rs398123643
Gnomad	rs398123643
Varsome	rs398123643
LitVar	rs398123643
Map	rs398123643
PheGenI	rs398123643
Biobank	rs398123643
1000 genomes	rs398123643
hgdp	rs398123643
ensembl	rs398123643
geneview	rs398123643
scholar	rs398123643
google	rs398123643
pharmgkb	rs398123643
gwascentral	rs398123643
openSNP	rs398123643
23andMe	rs398123643
SNPshot	rs398123643
SNPdbe	rs398123643
MSV3d	rs398123643
GWAS Ctlg	rs398123643

Max Magnitude

0

ClinVar
Risk	rs398123643(A;A)
Alt	rs398123643(A;A)
Reference	Rs398123643(G;G)
Significance	Probable-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.47409540G>A
CLNSRC	HGMD
CLNACC	RCV000079834.3, RCV000173743.2, RCV000173744.2,