rs794727788

Orientation

plus

Stabilized

plus

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

Make rs794727788(A;A)

Make rs794727788(A;G)

Reference

GRCh38.p2 38.2/147

Chromosome

21

Position

46115882

Gene

COL6A2

is a	snp
is	mentioned by
dbSNP	rs794727788
dbSNP (classic)	rs794727788
ClinGen	rs794727788
ebi	rs794727788
HLI	rs794727788
Exac	rs794727788
Gnomad	rs794727788
Varsome	rs794727788
LitVar	rs794727788
Map	rs794727788
PheGenI	rs794727788
Biobank	rs794727788
1000 genomes	rs794727788
hgdp	rs794727788
ensembl	rs794727788
geneview	rs794727788
scholar	rs794727788
google	rs794727788
pharmgkb	rs794727788
gwascentral	rs794727788
openSNP	rs794727788
23andMe	rs794727788
SNPshot	rs794727788
SNPdbe	rs794727788
MSV3d	rs794727788
GWAS Ctlg	rs794727788

Max Magnitude

0

ClinVar
Risk	rs794727788(A;A)
Alt	rs794727788(A;A)
Reference	Rs794727788(G;G)
Significance	Pathogenic
Disease	Bethlem myopathy 1 Ullrich congenital muscular dystrophy 1
Variation	info
Gene	COL6A2
CLNDBN	Bethlem myopathy 1 Ullrich congenital muscular dystrophy 1
Reversed	0
HGVS	NC_000021.8:g.47535796G>A
CLNSRC
CLNACC	RCV000179390.1, RCV000179391.1,