rs794727715

Orientation

plus

Stabilized

plus

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

Make rs794727715(A;A)

Make rs794727715(A;G)

Reference

GRCh38.p2 38.2/147

Chromosome

21

Position

46114074

Gene

COL6A2

is a	snp
is	mentioned by
dbSNP	rs794727715
dbSNP (classic)	rs794727715
ClinGen	rs794727715
ebi	rs794727715
HLI	rs794727715
Exac	rs794727715
Gnomad	rs794727715
Varsome	rs794727715
LitVar	rs794727715
Map	rs794727715
PheGenI	rs794727715
Biobank	rs794727715
1000 genomes	rs794727715
hgdp	rs794727715
ensembl	rs794727715
geneview	rs794727715
scholar	rs794727715
google	rs794727715
pharmgkb	rs794727715
gwascentral	rs794727715
openSNP	rs794727715
23andMe	rs794727715
SNPshot	rs794727715
SNPdbe	rs794727715
MSV3d	rs794727715
GWAS Ctlg	rs794727715

Max Magnitude

0

ClinVar
Risk	rs794727715(A;A) rs794727715(T;T)
Alt	rs794727715(A;A) rs794727715(T;T)
Reference	Rs794727715(G;G)
Significance	Pathogenic
Disease	Ullrich congenital muscular dystrophy 1 Bethlem myopathy 1
Variation	info
Gene	COL6A2
CLNDBN	Ullrich congenital muscular dystrophy 1 Bethlem myopathy 1
Reversed	0
HGVS	NC_000021.8:g.47533988G>A; NC_000021.8:g.47533988G>T
CLNSRC
CLNACC	RCV000178850.1, RCV000178851.1, RCV000288156.1, RCV000345348.1,