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rs1064792870

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Chromosome22
Position50527170
GeneSCO2, TYMP
is asnp
is mentioned by
dbSNPrs1064792870
dbSNP (old)rs1064792870
ClinGenrs1064792870
ebirs1064792870
HLIrs1064792870
Exacrs1064792870
Gnomadrs1064792870
Varsomers1064792870
Maprs1064792870
PheGenIrs1064792870
Biobankrs1064792870
1000 genomesrs1064792870
hgdprs1064792870
ensemblrs1064792870
gopubmedrs1064792870
geneviewrs1064792870
scholarrs1064792870
googlers1064792870
pharmgkbrs1064792870
gwascentralrs1064792870
openSNPrs1064792870
23andMers1064792870
23andMe allrs1064792870
SNPshotrs1064792870
SNPdbers1064792870
MSV3drs1064792870
GWAS Ctlgrs1064792870
Max Magnitude0
ClinVar
Risk rs1064792870(C;C)
Alt rs1064792870(C;C)
Reference Rs1064792870(A;A)
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.50965599T>G
CLNSRC
CLNACC RCV000208703.1,