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rs1064792868

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Chromosome22
Position50527223
GeneSCO2, TYMP
is asnp
is mentioned by
dbSNPrs1064792868
dbSNP (old)rs1064792868
ClinGenrs1064792868
ebirs1064792868
HLIrs1064792868
Exacrs1064792868
Gnomadrs1064792868
Varsomers1064792868
Maprs1064792868
PheGenIrs1064792868
Biobankrs1064792868
1000 genomesrs1064792868
hgdprs1064792868
ensemblrs1064792868
gopubmedrs1064792868
geneviewrs1064792868
scholarrs1064792868
googlers1064792868
pharmgkbrs1064792868
gwascentralrs1064792868
openSNPrs1064792868
23andMers1064792868
23andMe allrs1064792868
SNPshotrs1064792868
SNPdbers1064792868
MSV3drs1064792868
GWAS Ctlgrs1064792868
Max Magnitude0
ClinVar
Risk rs1064792868(C;C)
Alt rs1064792868(C;C)
Reference Rs1064792868(T;T)
Significance Pathogenic
Disease Mitochondrial DNA depletion syndrome 1 (MNGIE type)
Variation info
Gene SCO2 TYMP
CLNDBN Mitochondrial DNA depletion syndrome 1 (MNGIE type)
Reversed 1
HGVS NC_000022.10:g.50965652A>G
CLNSRC
CLNACC RCV000208618.1,