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rs113525292

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs113525292(G;G)
Make rs113525292(G;T)
ReferenceGRCh38 38.1/142
Chromosome21
Position46115927
GeneCOL6A2
is asnp
is mentioned by
dbSNPrs113525292
ebirs113525292
HLIrs113525292
Exacrs113525292
Varsomers113525292
Maprs113525292
PheGenIrs113525292
hapmaprs113525292
1000 genomesrs113525292
hgdprs113525292
ensemblrs113525292
gopubmedrs113525292
geneviewrs113525292
scholarrs113525292
googlers113525292
pharmgkbrs113525292
gwascentralrs113525292
openSNPrs113525292
23andMers113525292
23andMe allrs113525292
SNP Nexus

SNPshotrs113525292
SNPdbers113525292
MSV3drs113525292
GWAS Ctlgrs113525292
Max Magnitude0
ClinVar
Risk rs113525292(C,G;C,G)
Alt rs113525292(C,G;C,G)
Reference rs113525292(T;T)
Significance Pathogenic
Disease not provided Bethlem myopathy Ullrich congenital muscular dystrophy
Variation info
Gene COL6A2
CLNDBN not provided Bethlem myopathy Ullrich congenital muscular dystrophy
Reversed 0
HGVS NC_000021.8:g.47535841T>G
CLNSRC ClinVar
CLNACC RCV000079901.3, RCV000179392.1, RCV000179393.1,