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rs536746349

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs536746349(C;G)
Make rs536746349(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome2
Position73950574
GeneDGUOK
is asnp
is mentioned by
dbSNPrs536746349
ebirs536746349
HLIrs536746349
Exacrs536746349
Varsomers536746349
Maprs536746349
PheGenIrs536746349
hapmaprs536746349
1000 genomesrs536746349
hgdprs536746349
ensemblrs536746349
gopubmedrs536746349
geneviewrs536746349
scholarrs536746349
googlers536746349
pharmgkbrs536746349
gwascentralrs536746349
openSNPrs536746349
23andMers536746349
23andMe allrs536746349
SNP Nexus

SNPshotrs536746349
SNPdbers536746349
MSV3drs536746349
GWAS Ctlgrs536746349
Max Magnitude0
ClinVar
Risk rs536746349(G;G)
Alt rs536746349(G;G)
Reference rs536746349(C;C)
Significance Pathogenic
Disease Progressive external ophthalmoplegia with mitochondrial DNA deletions
Variation info
Gene DGUOK
CLNDBN Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4
Reversed 0
HGVS NC_000002.11:g.74177701C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000239560.1,