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rs1064792878

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Chromosome22
Position50526000
GeneSCO2, TYMP
is asnp
is mentioned by
dbSNPrs1064792878
dbSNP (old)rs1064792878
ClinGenrs1064792878
ebirs1064792878
HLIrs1064792878
Exacrs1064792878
Gnomadrs1064792878
Varsomers1064792878
Maprs1064792878
PheGenIrs1064792878
Biobankrs1064792878
1000 genomesrs1064792878
hgdprs1064792878
ensemblrs1064792878
gopubmedrs1064792878
geneviewrs1064792878
scholarrs1064792878
googlers1064792878
pharmgkbrs1064792878
gwascentralrs1064792878
openSNPrs1064792878
23andMers1064792878
23andMe allrs1064792878
SNPshotrs1064792878
SNPdbers1064792878
MSV3drs1064792878
GWAS Ctlgrs1064792878
Max Magnitude0
ClinVar
Risk rs1064792878(A;A)
Alt rs1064792878(A;A)
Reference Rs1064792878(G;G)
Significance Pathogenic
Disease Mitochondrial DNA depletion syndrome 1 (MNGIE type)
Variation info
Gene TYMP SCO2
CLNDBN Mitochondrial DNA depletion syndrome 1 (MNGIE type)
Reversed 1
HGVS NC_000022.10:g.50964429C>T
CLNSRC
CLNACC RCV000208711.1,