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rs587780587

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587780587(C;C)
Make rs587780587(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position73946750
GeneDGUOK
is asnp
is mentioned by
dbSNPrs587780587
ebirs587780587
HLIrs587780587
Exacrs587780587
Varsomers587780587
Maprs587780587
PheGenIrs587780587
hapmaprs587780587
1000 genomesrs587780587
hgdprs587780587
ensemblrs587780587
gopubmedrs587780587
geneviewrs587780587
scholarrs587780587
googlers587780587
pharmgkbrs587780587
gwascentralrs587780587
openSNPrs587780587
23andMers587780587
23andMe allrs587780587
SNP Nexus

SNPshotrs587780587
SNPdbers587780587
MSV3drs587780587
GWAS Ctlgrs587780587
Max Magnitude0
ClinVar
Risk rs587780587(C;C)
Alt rs587780587(C;C)
Reference rs587780587(T;T)
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.74173877T>C
CLNSRC
CLNACC RCV000122730.1,