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rs886043992

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Chromosome2
Position237334662
GeneCOL6A3
is asnp
is mentioned by
dbSNPrs886043992
dbSNP (classic)rs886043992
ClinGenrs886043992
ebirs886043992
HLIrs886043992
Exacrs886043992
Gnomadrs886043992
Varsomers886043992
LitVarrs886043992
Maprs886043992
PheGenIrs886043992
Biobankrs886043992
1000 genomesrs886043992
hgdprs886043992
ensemblrs886043992
geneviewrs886043992
scholarrs886043992
googlers886043992
pharmgkbrs886043992
gwascentralrs886043992
openSNPrs886043992
23andMers886043992
SNPshotrs886043992
SNPdbers886043992
MSV3drs886043992
GWAS Ctlgrs886043992
Max Magnitude0
ClinVar
Risk rs886043992(A;A)
Alt rs886043992(A;A)
Reference Rs886043992(G;G)
Significance Pathogenic
Disease Myopathy
Variation info
Gene COL6A3
CLNDBN Myopathy
Reversed 0
HGVS NC_000002.11:g.238243305G>A
CLNSRC
CLNACC RCV000316987.1,