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rs1064792867

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Chromosome22
Position50527611
GeneSCO2, TYMP
is asnp
is mentioned by
dbSNPrs1064792867
dbSNP (old)rs1064792867
ClinGenrs1064792867
ebirs1064792867
HLIrs1064792867
Exacrs1064792867
Gnomadrs1064792867
Varsomers1064792867
LitVarrs1064792867
Maprs1064792867
PheGenIrs1064792867
Biobankrs1064792867
1000 genomesrs1064792867
hgdprs1064792867
ensemblrs1064792867
gopubmedrs1064792867
geneviewrs1064792867
scholarrs1064792867
googlers1064792867
pharmgkbrs1064792867
gwascentralrs1064792867
openSNPrs1064792867
23andMers1064792867
23andMe allrs1064792867
SNPshotrs1064792867
SNPdbers1064792867
MSV3drs1064792867
GWAS Ctlgrs1064792867
Max Magnitude0
ClinVar
Risk rs1064792867(G;G)
Alt rs1064792867(G;G)
Reference Rs1064792867(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.50966040A>C
CLNSRC
CLNACC RCV000208663.1,