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rs886041434

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Chromosome2
Position237361176
GeneCOL6A3
is asnp
is mentioned by
dbSNPrs886041434
dbSNP (old)rs886041434
ClinGenrs886041434
ebirs886041434
HLIrs886041434
Exacrs886041434
Gnomadrs886041434
Varsomers886041434
LitVarrs886041434
Maprs886041434
PheGenIrs886041434
Biobankrs886041434
1000 genomesrs886041434
hgdprs886041434
ensemblrs886041434
gopubmedrs886041434
geneviewrs886041434
scholarrs886041434
googlers886041434
pharmgkbrs886041434
gwascentralrs886041434
openSNPrs886041434
23andMers886041434
23andMe allrs886041434
SNPshotrs886041434
SNPdbers886041434
MSV3drs886041434
GWAS Ctlgrs886041434
Max Magnitude0
ClinVar
Risk rs886041434(C;C)
Alt rs886041434(C;C)
Reference Rs886041434(A;A)
Significance Pathogenic
Disease not provided Ullrich congenital muscular dystrophy 1
Variation info
Gene COL6A3
CLNDBN not provided Ullrich congenital muscular dystrophy 1
Reversed 1
HGVS NC_000002.11:g.238269819T>G
CLNSRC
CLNACC RCV000336040.1, RCV000357696.1,