rs794729205

Orientation

minus

Stabilized

minus

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

Make rs794729205(-;-)

Make rs794729205(-;C)

Reference

GRCh38.p2 38.2/146

Chromosome

2

Position

237350167

Gene

COL6A3

is a	snp
is	mentioned by
dbSNP	rs794729205
dbSNP (classic)	rs794729205
ClinGen	rs794729205
ebi	rs794729205
HLI	rs794729205
Exac	rs794729205
Gnomad	rs794729205
Varsome	rs794729205
LitVar	rs794729205
Map	rs794729205
PheGenI	rs794729205
Biobank	rs794729205
1000 genomes	rs794729205
hgdp	rs794729205
ensembl	rs794729205
geneview	rs794729205
scholar	rs794729205
google	rs794729205
pharmgkb	rs794729205
gwascentral	rs794729205
openSNP	rs794729205
23andMe	rs794729205
SNPshot	rs794729205
SNPdbe	rs794729205
MSV3d	rs794729205
GWAS Ctlg	rs794729205

Max Magnitude

0

ClinVar
Risk	rs794729205(-;-)
Alt	rs794729205(-;-)
Reference	Rs794729205(C;C)
Significance	Probable-Pathogenic
Disease	Bethlem myopathy 1
Variation	info
Gene	COL6A3
CLNDBN	Bethlem myopathy 1
Reversed	1
HGVS	NC_000002.11:g.238258810delG
CLNSRC
CLNACC	RCV000184025.2,