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rs104893633

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104893633(G;T)
Make rs104893633(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position73958201
GeneDGUOK, DGUOK-AS1
is asnp
is mentioned by
dbSNPrs104893633
ebirs104893633
HLIrs104893633
Exacrs104893633
Varsomers104893633
Maprs104893633
PheGenIrs104893633
hapmaprs104893633
1000 genomesrs104893633
hgdprs104893633
ensemblrs104893633
gopubmedrs104893633
geneviewrs104893633
scholarrs104893633
googlers104893633
pharmgkbrs104893633
gwascentralrs104893633
openSNPrs104893633
23andMers104893633
23andMe allrs104893633
SNP Nexus

SNPshotrs104893633
SNPdbers104893633
MSV3drs104893633
GWAS Ctlgrs104893633
Max Magnitude0
OMIM601465
Desc
Variant0007
Relatedalso
ClinVar
Risk rs104893633(T;T)
Alt rs104893633(T;T)
Reference rs104893633(G;G)
Significance Pathogenic
Disease Mitochondrial DNA-depletion syndrome 3
Variation info
Gene DGUOK-AS1 DGUOK
CLNDBN Mitochondrial DNA-depletion syndrome 3, hepatocerebral
Reversed 0
HGVS NC_000002.11:g.74185328G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008637.3,