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rs1064792885

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Chromosome22
Position50525787
GeneSCO2, TYMP
is asnp
is mentioned by
dbSNPrs1064792885
dbSNP (old)rs1064792885
ClinGenrs1064792885
ebirs1064792885
HLIrs1064792885
Exacrs1064792885
Gnomadrs1064792885
Varsomers1064792885
Maprs1064792885
PheGenIrs1064792885
Biobankrs1064792885
1000 genomesrs1064792885
hgdprs1064792885
ensemblrs1064792885
gopubmedrs1064792885
geneviewrs1064792885
scholarrs1064792885
googlers1064792885
pharmgkbrs1064792885
gwascentralrs1064792885
openSNPrs1064792885
23andMers1064792885
23andMe allrs1064792885
SNPshotrs1064792885
SNPdbers1064792885
MSV3drs1064792885
GWAS Ctlgrs1064792885
Max Magnitude0
ClinVar
Risk rs1064792885(T;T)
Alt rs1064792885(T;T)
Reference Rs1064792885(-;-)
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.50964217dup
CLNSRC
CLNACC RCV000208688.1,