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rs104893630

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104893630(C;T)
Make rs104893630(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position73946776
GeneDGUOK
is asnp
is mentioned by
dbSNPrs104893630
ebirs104893630
HLIrs104893630
Exacrs104893630
Varsomers104893630
Maprs104893630
PheGenIrs104893630
hapmaprs104893630
1000 genomesrs104893630
hgdprs104893630
ensemblrs104893630
gopubmedrs104893630
geneviewrs104893630
scholarrs104893630
googlers104893630
pharmgkbrs104893630
gwascentralrs104893630
openSNPrs104893630
23andMers104893630
23andMe allrs104893630
SNP Nexus

SNPshotrs104893630
SNPdbers104893630
MSV3drs104893630
GWAS Ctlgrs104893630
Max Magnitude0
OMIM601465
Desc
Variant0002
Relatedalso
ClinVar
Risk rs104893630(T;T)
Alt rs104893630(T;T)
Reference rs104893630(C;C)
Significance Pathogenic
Disease Mitochondrial DNA-depletion syndrome 3
Variation info
Gene DGUOK
CLNDBN Mitochondrial DNA-depletion syndrome 3, hepatocerebral
Reversed 0
HGVS NC_000002.11:g.74173903C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008632.4,