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rs121913039

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121913039(A;A)
Make rs121913039(A;G)
ReferenceGRCh38 38.1/141
Chromosome22
Position50527612
GeneSCO2, TYMP
is asnp
is mentioned by
dbSNPrs121913039
ebirs121913039
HLIrs121913039
Exacrs121913039
Varsomers121913039
Maprs121913039
PheGenIrs121913039
hapmaprs121913039
1000 genomesrs121913039
hgdprs121913039
ensemblrs121913039
gopubmedrs121913039
geneviewrs121913039
scholarrs121913039
googlers121913039
pharmgkbrs121913039
gwascentralrs121913039
openSNPrs121913039
23andMers121913039
23andMe allrs121913039
SNP Nexus

SNPshotrs121913039
SNPdbers121913039
MSV3drs121913039
GWAS Ctlgrs121913039
GMAF0.0004591
Max Magnitude0
OMIM131222
Desc
Variant0011
Relatedalso
ClinVar
Risk rs121913039(A;A)
Alt rs121913039(A;A)
Reference rs121913039(G;G)
Significance Pathogenic
Disease Mitochondrial DNA depletion syndrome 1 (MNGIE type) not provided
Variation info
Gene TYMP SCO2
CLNDBN Mitochondrial DNA depletion syndrome 1 (MNGIE type) not provided
Reversed 1
HGVS NC_000022.10:g.50966041C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018143.24, RCV000199543.1,