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rs1064792874

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Chromosome22
Position50526019
GeneSCO2, TYMP
is asnp
is mentioned by
dbSNPrs1064792874
dbSNP (old)rs1064792874
ClinGenrs1064792874
ebirs1064792874
HLIrs1064792874
Exacrs1064792874
Gnomadrs1064792874
Varsomers1064792874
Maprs1064792874
PheGenIrs1064792874
Biobankrs1064792874
1000 genomesrs1064792874
hgdprs1064792874
ensemblrs1064792874
gopubmedrs1064792874
geneviewrs1064792874
scholarrs1064792874
googlers1064792874
pharmgkbrs1064792874
gwascentralrs1064792874
openSNPrs1064792874
23andMers1064792874
23andMe allrs1064792874
SNPshotrs1064792874
SNPdbers1064792874
MSV3drs1064792874
GWAS Ctlgrs1064792874
Max Magnitude0
ClinVar
Risk rs1064792874(A;A)
Alt rs1064792874(A;A)
Reference Rs1064792874(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.50964448C>T
CLNSRC
CLNACC RCV000208625.1,