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rs150678946

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs150678946(G;T)
Make rs150678946(T;T)
ReferenceGRCh38.p7 38.3/149
Chromosome2
Position73946816
GeneDGUOK
is asnp
is mentioned by
dbSNPrs150678946
dbSNP (old)rs150678946
ClinGenrs150678946
ebirs150678946
HLIrs150678946
Exacrs150678946
Gnomadrs150678946
Varsomers150678946
LitVarrs150678946
Maprs150678946
PheGenIrs150678946
Biobankrs150678946
1000 genomesrs150678946
hgdprs150678946
ensemblrs150678946
gopubmedrs150678946
geneviewrs150678946
scholarrs150678946
googlers150678946
pharmgkbrs150678946
gwascentralrs150678946
openSNPrs150678946
23andMers150678946
23andMe allrs150678946
SNPshotrs150678946
SNPdbers150678946
MSV3drs150678946
GWAS Ctlgrs150678946
Max Magnitude0
ClinVar
Risk rs150678946(A;A) rs150678946(T;T)
Alt rs150678946(A;A) rs150678946(T;T)
Reference Rs150678946(G;G)
Significance Probable-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.74173943G>A
CLNSRC
CLNACC RCV000330566.1,