Have questions? Visit https://www.reddit.com/r/SNPedia

rs104893632

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104893632(A;A)
Make rs104893632(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position73957212
GeneDGUOK
is asnp
is mentioned by
dbSNPrs104893632
ebirs104893632
HLIrs104893632
Exacrs104893632
Varsomers104893632
Maprs104893632
PheGenIrs104893632
hapmaprs104893632
1000 genomesrs104893632
hgdprs104893632
ensemblrs104893632
gopubmedrs104893632
geneviewrs104893632
scholarrs104893632
googlers104893632
pharmgkbrs104893632
gwascentralrs104893632
openSNPrs104893632
23andMers104893632
23andMe allrs104893632
SNP Nexus

SNPshotrs104893632
SNPdbers104893632
MSV3drs104893632
GWAS Ctlgrs104893632
Max Magnitude0
OMIM601465
Desc
Variant0006
Relatedalso
ClinVar
Risk rs104893632(A;A)
Alt rs104893632(A;A)
Reference rs104893632(G;G)
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.74184339G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000008636.4,