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rs886042883

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Chromosome2
Position237359205
GeneCOL6A3
is asnp
is mentioned by
dbSNPrs886042883
dbSNP (classic)rs886042883
ClinGenrs886042883
ebirs886042883
HLIrs886042883
Exacrs886042883
Gnomadrs886042883
Varsomers886042883
LitVarrs886042883
Maprs886042883
PheGenIrs886042883
Biobankrs886042883
1000 genomesrs886042883
hgdprs886042883
ensemblrs886042883
geneviewrs886042883
scholarrs886042883
googlers886042883
pharmgkbrs886042883
gwascentralrs886042883
openSNPrs886042883
23andMers886042883
SNPshotrs886042883
SNPdbers886042883
MSV3drs886042883
GWAS Ctlgrs886042883
Max Magnitude0
ClinVar
Risk rs886042883(A;A) rs886042883(T;T)
Alt rs886042883(A;A) rs886042883(T;T)
Reference Rs886042883(C;C)
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.238267848C>A; NC_000002.11:g.238267848C>T
CLNSRC
CLNACC RCV000305531.1, RCV000319175.1, RCV000373756.1,