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rs886043919

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Chromosome2
Position237359361
GeneCOL6A3
is asnp
is mentioned by
dbSNPrs886043919
dbSNP (classic)rs886043919
ClinGenrs886043919
ebirs886043919
HLIrs886043919
Exacrs886043919
Gnomadrs886043919
Varsomers886043919
LitVarrs886043919
Maprs886043919
PheGenIrs886043919
Biobankrs886043919
1000 genomesrs886043919
hgdprs886043919
ensemblrs886043919
geneviewrs886043919
scholarrs886043919
googlers886043919
pharmgkbrs886043919
gwascentralrs886043919
openSNPrs886043919
23andMers886043919
SNPshotrs886043919
SNPdbers886043919
MSV3drs886043919
GWAS Ctlgrs886043919
Max Magnitude0
ClinVar
Risk rs886043919(A;A)
Alt rs886043919(A;A)
Reference Rs886043919(C;C)
Significance Probable-Pathogenic
Disease Limb-girdle muscle weakness
Variation info
Gene COL6A3
CLNDBN Limb-girdle muscle weakness
Reversed 0
HGVS NC_000002.11:g.238268004C>A
CLNSRC
CLNACC RCV000337392.1,