rs794727206

Orientation

minus

Stabilized

minus

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

Make rs794727206(G;T)

Make rs794727206(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

2

Position

237359378

Gene

COL6A3

is a	snp
is	mentioned by
dbSNP	rs794727206
dbSNP (classic)	rs794727206
ClinGen	rs794727206
ebi	rs794727206
HLI	rs794727206
Exac	rs794727206
Gnomad	rs794727206
Varsome	rs794727206
LitVar	rs794727206
Map	rs794727206
PheGenI	rs794727206
Biobank	rs794727206
1000 genomes	rs794727206
hgdp	rs794727206
ensembl	rs794727206
geneview	rs794727206
scholar	rs794727206
google	rs794727206
pharmgkb	rs794727206
gwascentral	rs794727206
openSNP	rs794727206
23andMe	rs794727206
SNPshot	rs794727206
SNPdbe	rs794727206
MSV3d	rs794727206
GWAS Ctlg	rs794727206

Max Magnitude

0

ClinVar
Risk	rs794727206(T;T)
Alt	rs794727206(T;T)
Reference	Rs794727206(G;G)
Significance	Pathogenic
Disease	Bethlem myopathy 1 Ullrich congenital muscular dystrophy 1
Variation	info
Gene	COL6A3
CLNDBN	Bethlem myopathy 1 Ullrich congenital muscular dystrophy 1
Reversed	1
HGVS	NC_000002.11:g.238268021C>A
CLNSRC
CLNACC	RCV000175313.1, RCV000388898.1,