rs794727061

Orientation

plus

Stabilized

plus

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

Make rs794727061(G;T)

Make rs794727061(T;T)

Reference

GRCh38.p7 38.3/149

Chromosome

21

Position

46117883

Gene

COL6A2

is a	snp
is	mentioned by
dbSNP	rs794727061
dbSNP (classic)	rs794727061
ClinGen	rs794727061
ebi	rs794727061
HLI	rs794727061
Exac	rs794727061
Gnomad	rs794727061
Varsome	rs794727061
LitVar	rs794727061
Map	rs794727061
PheGenI	rs794727061
Biobank	rs794727061
1000 genomes	rs794727061
hgdp	rs794727061
ensembl	rs794727061
geneview	rs794727061
scholar	rs794727061
google	rs794727061
pharmgkb	rs794727061
gwascentral	rs794727061
openSNP	rs794727061
23andMe	rs794727061
SNPshot	rs794727061
SNPdbe	rs794727061
MSV3d	rs794727061
GWAS Ctlg	rs794727061

Max Magnitude

0

ClinVar
Risk	rs794727061(T;T)
Alt	rs794727061(T;T)
Reference	Rs794727061(G;G)
Significance	Probable-Pathogenic
Disease	not provided Bethlem myopathy 1
Variation	info
Gene	COL6A2
CLNDBN	not provided Bethlem myopathy 1
Reversed	0
HGVS	NC_000021.8:g.47537797G>T
CLNSRC
CLNACC	RCV000174305.1, RCV000392800.1,