rs113525292

Orientation

plus

Stabilized

plus

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

Make rs113525292(G;G)

Make rs113525292(G;T)

Reference

GRCh38 38.1/142

Chromosome

21

Position

46115927

Gene

COL6A2

is a	snp
is	mentioned by
dbSNP	rs113525292
dbSNP (classic)	rs113525292
ClinGen	rs113525292
ebi	rs113525292
HLI	rs113525292
Exac	rs113525292
Gnomad	rs113525292
Varsome	rs113525292
LitVar	rs113525292
Map	rs113525292
PheGenI	rs113525292
Biobank	rs113525292
1000 genomes	rs113525292
hgdp	rs113525292
ensembl	rs113525292
geneview	rs113525292
scholar	rs113525292
google	rs113525292
pharmgkb	rs113525292
gwascentral	rs113525292
openSNP	rs113525292
23andMe	rs113525292
SNPshot	rs113525292
SNPdbe	rs113525292
MSV3d	rs113525292
GWAS Ctlg	rs113525292

Max Magnitude

0

ClinVar
Risk	rs113525292(C;C) rs113525292(G;G)
Alt	rs113525292(C;C) rs113525292(G;G)
Reference	Rs113525292(T;T)
Significance	Pathogenic
Disease	not provided Bethlem myopathy 1 Ullrich congenital muscular dystrophy 1
Variation	info
Gene	COL6A2
CLNDBN	not provided Bethlem myopathy 1 Ullrich congenital muscular dystrophy 1
Reversed	0
HGVS	NC_000021.8:g.47535841T>G
CLNSRC	ClinVar
CLNACC	RCV000079901.3, RCV000179392.1, RCV000179393.1,