rs794729206

Orientation

minus

Stabilized

minus

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

Make rs794729206(A;A)

Make rs794729206(A;G)

Reference

GRCh38.p2 38.2/146

Chromosome

2

Position

237361836

Gene

COL6A3

is a	snp
is	mentioned by
dbSNP	rs794729206
dbSNP (classic)	rs794729206
ClinGen	rs794729206
ebi	rs794729206
HLI	rs794729206
Exac	rs794729206
Gnomad	rs794729206
Varsome	rs794729206
LitVar	rs794729206
Map	rs794729206
PheGenI	rs794729206
Biobank	rs794729206
1000 genomes	rs794729206
hgdp	rs794729206
ensembl	rs794729206
geneview	rs794729206
scholar	rs794729206
google	rs794729206
pharmgkb	rs794729206
gwascentral	rs794729206
openSNP	rs794729206
23andMe	rs794729206
SNPshot	rs794729206
SNPdbe	rs794729206
MSV3d	rs794729206
GWAS Ctlg	rs794729206

Max Magnitude

0

ClinVar
Risk	rs794729206(A;A)
Alt	rs794729206(A;A)
Reference	Rs794729206(G;G)
Significance	Probable-Pathogenic
Disease	Bethlem myopathy 1
Variation	info
Gene	COL6A3
CLNDBN	Bethlem myopathy 1
Reversed	1
HGVS	NC_000002.11:g.238270479C>T
CLNSRC
CLNACC	RCV000184025.2,