rs794727188

Orientation

minus

Stabilized

minus

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

Make rs794727188(A;A)

Make rs794727188(A;G)

Reference

GRCh38.p2 38.2/146

Chromosome

2

Position

237360131

Gene

COL6A3

is a	snp
is	mentioned by
dbSNP	rs794727188
dbSNP (classic)	rs794727188
ClinGen	rs794727188
ebi	rs794727188
HLI	rs794727188
Exac	rs794727188
Gnomad	rs794727188
Varsome	rs794727188
LitVar	rs794727188
Map	rs794727188
PheGenI	rs794727188
Biobank	rs794727188
1000 genomes	rs794727188
hgdp	rs794727188
ensembl	rs794727188
geneview	rs794727188
scholar	rs794727188
google	rs794727188
pharmgkb	rs794727188
gwascentral	rs794727188
openSNP	rs794727188
23andMe	rs794727188
SNPshot	rs794727188
SNPdbe	rs794727188
MSV3d	rs794727188
GWAS Ctlg	rs794727188

Max Magnitude

0

ClinVar
Risk	rs794727188(A;A)
Alt	rs794727188(A;A)
Reference	Rs794727188(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.238268774C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000175185.1, RCV000379282.1,