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rs1064792871

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Chromosome22
Position50526657
GeneSCO2, TYMP
is asnp
is mentioned by
dbSNPrs1064792871
dbSNP (old)rs1064792871
ClinGenrs1064792871
ebirs1064792871
HLIrs1064792871
Exacrs1064792871
Gnomadrs1064792871
Varsomers1064792871
Maprs1064792871
PheGenIrs1064792871
Biobankrs1064792871
1000 genomesrs1064792871
hgdprs1064792871
ensemblrs1064792871
gopubmedrs1064792871
geneviewrs1064792871
scholarrs1064792871
googlers1064792871
pharmgkbrs1064792871
gwascentralrs1064792871
openSNPrs1064792871
23andMers1064792871
23andMe allrs1064792871
SNPshotrs1064792871
SNPdbers1064792871
MSV3drs1064792871
GWAS Ctlgrs1064792871
Max Magnitude0
ClinVar
Risk rs1064792871(G;G)
Alt rs1064792871(G;G)
Reference Rs1064792871(C;C)
Significance Pathogenic
Disease Mitochondrial DNA depletion syndrome 1 (MNGIE type)
Variation info
Gene SCO2 TYMP
CLNDBN Mitochondrial DNA depletion syndrome 1 (MNGIE type)
Reversed 1
HGVS NC_000022.10:g.50965086G>C
CLNSRC
CLNACC RCV000208628.1,