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rs1064792887

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Chromosome22
Position50527210
GeneSCO2, TYMP
is asnp
is mentioned by
dbSNPrs1064792887
dbSNP (old)rs1064792887
ClinGenrs1064792887
ebirs1064792887
HLIrs1064792887
Exacrs1064792887
Gnomadrs1064792887
Varsomers1064792887
Maprs1064792887
PheGenIrs1064792887
Biobankrs1064792887
1000 genomesrs1064792887
hgdprs1064792887
ensemblrs1064792887
gopubmedrs1064792887
geneviewrs1064792887
scholarrs1064792887
googlers1064792887
pharmgkbrs1064792887
gwascentralrs1064792887
openSNPrs1064792887
23andMers1064792887
23andMe allrs1064792887
SNPshotrs1064792887
SNPdbers1064792887
MSV3drs1064792887
GWAS Ctlgrs1064792887
Max Magnitude0
ClinVar
Risk rs1064792887(-;-)
Alt rs1064792887(-;-)
Reference Rs1064792887(C;C)
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.50965639delG
CLNSRC
CLNACC RCV000208696.1,