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rs863223949

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AG;AG) 0 common in clinvar
Make rs863223949(-;-)
Make rs863223949(-;GA)
Make rs863223949(GA;GA)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position73957138
GeneDGUOK
is asnp
is mentioned by
dbSNPrs863223949
dbSNP (old)rs863223949
ClinGenrs863223949
ebirs863223949
HLIrs863223949
Exacrs863223949
Gnomadrs863223949
Varsomers863223949
Maprs863223949
PheGenIrs863223949
Biobankrs863223949
1000 genomesrs863223949
hgdprs863223949
ensemblrs863223949
gopubmedrs863223949
geneviewrs863223949
scholarrs863223949
googlers863223949
pharmgkbrs863223949
gwascentralrs863223949
openSNPrs863223949
23andMers863223949
23andMe allrs863223949
SNP Nexus

SNPshotrs863223949
SNPdbers863223949
MSV3drs863223949
GWAS Ctlgrs863223949
Max Magnitude0
ClinVar
Risk rs863223949(-;-)
Alt rs863223949(-;-)
Reference Rs863223949(AG;AG)
Significance Pathogenic
Disease not provided Progressive external ophthalmoplegia with mitochondrial DNA deletions Mitochondrial DNA-depletion syndrome 3
Variation info
Gene DGUOK
CLNDBN not provided Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 Mitochondrial DNA-depletion syndrome 3, hepatocerebral
Reversed 0
HGVS NC_000002.11:g.74184265_74184266delGA
CLNSRC OMIM Allelic Variant
CLNACC RCV000196566.2, RCV000239503.1, RCV000239539.1,