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rs1064792866

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Chromosome22
Position50527704
GeneSCO2, TYMP
is asnp
is mentioned by
dbSNPrs1064792866
dbSNP (old)rs1064792866
ClinGenrs1064792866
ebirs1064792866
HLIrs1064792866
Exacrs1064792866
Gnomadrs1064792866
Varsomers1064792866
Maprs1064792866
PheGenIrs1064792866
Biobankrs1064792866
1000 genomesrs1064792866
hgdprs1064792866
ensemblrs1064792866
gopubmedrs1064792866
geneviewrs1064792866
scholarrs1064792866
googlers1064792866
pharmgkbrs1064792866
gwascentralrs1064792866
openSNPrs1064792866
23andMers1064792866
23andMe allrs1064792866
SNPshotrs1064792866
SNPdbers1064792866
MSV3drs1064792866
GWAS Ctlgrs1064792866
Max Magnitude0
ClinVar
Risk rs1064792866(C;C)
Alt rs1064792866(C;C)
Reference Rs1064792866(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.50966133A>G
CLNSRC
CLNACC RCV000208713.1,