rs397515333

Orientation

plus

Stabilized

plus

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

Make rs397515333(A;A)

Make rs397515333(A;G)

Reference

GRCh38 38.1/141

Chromosome

21

Position

46115873

Gene

COL6A2

is a	snp
is	mentioned by
dbSNP	rs397515333
dbSNP (classic)	rs397515333
ClinGen	rs397515333
ebi	rs397515333
HLI	rs397515333
Exac	rs397515333
Gnomad	rs397515333
Varsome	rs397515333
LitVar	rs397515333
Map	rs397515333
PheGenI	rs397515333
Biobank	rs397515333
1000 genomes	rs397515333
hgdp	rs397515333
ensembl	rs397515333
geneview	rs397515333
scholar	rs397515333
google	rs397515333
pharmgkb	rs397515333
gwascentral	rs397515333
openSNP	rs397515333
23andMe	rs397515333
SNPshot	rs397515333
SNPdbe	rs397515333
MSV3d	rs397515333
GWAS Ctlg	rs397515333

Max Magnitude

0

ClinVar
Risk	rs397515333(A;A)
Alt	rs397515333(A;A)
Reference	Rs397515333(G;G)
Significance	Probable-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.47535787G>A
CLNSRC	ClinVar Emory University
CLNACC	RCV000050246.4, RCV000179388.2, RCV000179389.2,