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rs886042447

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Chromosome2
Position237371893
GeneCOL6A3
is asnp
is mentioned by
dbSNPrs886042447
dbSNP (old)rs886042447
ClinGenrs886042447
ebirs886042447
HLIrs886042447
Exacrs886042447
Gnomadrs886042447
Varsomers886042447
LitVarrs886042447
Maprs886042447
PheGenIrs886042447
Biobankrs886042447
1000 genomesrs886042447
hgdprs886042447
ensemblrs886042447
gopubmedrs886042447
geneviewrs886042447
scholarrs886042447
googlers886042447
pharmgkbrs886042447
gwascentralrs886042447
openSNPrs886042447
23andMers886042447
23andMe allrs886042447
SNPshotrs886042447
SNPdbers886042447
MSV3drs886042447
GWAS Ctlgrs886042447
Max Magnitude0
ClinVar
Risk rs886042447(-;-)
Alt rs886042447(-;-)
Reference Rs886042447(T;T)
Significance Pathogenic
Disease Ullrich congenital muscular dystrophy 1 Bethlem myopathy 1
Variation info
Gene COL6A3
CLNDBN Ullrich congenital muscular dystrophy 1 Bethlem myopathy 1
Reversed 0
HGVS NC_000002.11:g.238280536delT
CLNSRC
CLNACC RCV000274130.1, RCV000365913.1,