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rs1064792876

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Chromosome22
Position50526575
GeneSCO2, TYMP
is asnp
is mentioned by
dbSNPrs1064792876
dbSNP (classic)rs1064792876
ClinGenrs1064792876
ebirs1064792876
HLIrs1064792876
Exacrs1064792876
Gnomadrs1064792876
Varsomers1064792876
LitVarrs1064792876
Maprs1064792876
PheGenIrs1064792876
Biobankrs1064792876
1000 genomesrs1064792876
hgdprs1064792876
ensemblrs1064792876
geneviewrs1064792876
scholarrs1064792876
googlers1064792876
pharmgkbrs1064792876
gwascentralrs1064792876
openSNPrs1064792876
23andMers1064792876
23andMe allrs1064792876
SNPshotrs1064792876
SNPdbers1064792876
MSV3drs1064792876
GWAS Ctlgrs1064792876
Max Magnitude0
ClinVar
Risk rs1064792876(A;A)
Alt rs1064792876(A;A)
Reference Rs1064792876(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.50965004C>T
CLNSRC
CLNACC RCV000208662.1,