rs398123645

Orientation

plus

Stabilized

plus

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

Make rs398123645(-;-)

Make rs398123645(-;A)

Reference

GRCh38 38.1/141

Chromosome

21

Position

46121558

Gene

COL6A2

is a	snp
is	mentioned by
dbSNP	rs398123645
dbSNP (classic)	rs398123645
ClinGen	rs398123645
ebi	rs398123645
HLI	rs398123645
Exac	rs398123645
Gnomad	rs398123645
Varsome	rs398123645
LitVar	rs398123645
Map	rs398123645
PheGenI	rs398123645
Biobank	rs398123645
1000 genomes	rs398123645
hgdp	rs398123645
ensembl	rs398123645
geneview	rs398123645
scholar	rs398123645
google	rs398123645
pharmgkb	rs398123645
gwascentral	rs398123645
openSNP	rs398123645
23andMe	rs398123645
SNPshot	rs398123645
SNPdbe	rs398123645
MSV3d	rs398123645
GWAS Ctlg	rs398123645

Max Magnitude

0

ClinVar
Risk	rs398123645(-;-)
Alt	rs398123645(-;-)
Reference	Rs398123645(A;A)
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.47541472delA
CLNSRC	ClinVar
CLNACC	RCV000079846.3, RCV000175292.1, RCV000175293.1,