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rs1064792869

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Chromosome22
Position50527215
GeneSCO2, TYMP
is asnp
is mentioned by
dbSNPrs1064792869
dbSNP (classic)rs1064792869
ClinGenrs1064792869
ebirs1064792869
HLIrs1064792869
Exacrs1064792869
Gnomadrs1064792869
Varsomers1064792869
LitVarrs1064792869
Maprs1064792869
PheGenIrs1064792869
Biobankrs1064792869
1000 genomesrs1064792869
hgdprs1064792869
ensemblrs1064792869
geneviewrs1064792869
scholarrs1064792869
googlers1064792869
pharmgkbrs1064792869
gwascentralrs1064792869
openSNPrs1064792869
23andMers1064792869
23andMe allrs1064792869
SNPshotrs1064792869
SNPdbers1064792869
MSV3drs1064792869
GWAS Ctlgrs1064792869
Max Magnitude0
ClinVar
Risk rs1064792869(A;A)
Alt rs1064792869(A;A)
Reference Rs1064792869(G;G)
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.50965644C>T
CLNSRC
CLNACC RCV000208661.1,