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rs1064792889

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Chromosome22
Position50525908
GeneSCO2, TYMP
is asnp
is mentioned by
dbSNPrs1064792889
dbSNP (old)rs1064792889
ClinGenrs1064792889
ebirs1064792889
HLIrs1064792889
Exacrs1064792889
Gnomadrs1064792889
Varsomers1064792889
Maprs1064792889
PheGenIrs1064792889
Biobankrs1064792889
1000 genomesrs1064792889
hgdprs1064792889
ensemblrs1064792889
gopubmedrs1064792889
geneviewrs1064792889
scholarrs1064792889
googlers1064792889
pharmgkbrs1064792889
gwascentralrs1064792889
openSNPrs1064792889
23andMers1064792889
23andMe allrs1064792889
SNPshotrs1064792889
SNPdbers1064792889
MSV3drs1064792889
GWAS Ctlgrs1064792889
Max Magnitude0
ClinVar
Risk rs1064792889(-;-)
Alt rs1064792889(-;-)
Reference Rs1064792889(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.50964337delC
CLNSRC
CLNACC RCV000208678.1,