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rs121913042

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121913042(C;C)
Make rs121913042(C;T)
ReferenceGRCh38 38.1/141
Chromosome22
Position50526650
GeneSCO2, TYMP
is asnp
is mentioned by
dbSNPrs121913042
ebirs121913042
HLIrs121913042
Exacrs121913042
Varsomers121913042
Maprs121913042
PheGenIrs121913042
hapmaprs121913042
1000 genomesrs121913042
hgdprs121913042
ensemblrs121913042
gopubmedrs121913042
geneviewrs121913042
scholarrs121913042
googlers121913042
pharmgkbrs121913042
gwascentralrs121913042
openSNPrs121913042
23andMers121913042
23andMe allrs121913042
SNP Nexus

SNPshotrs121913042
SNPdbers121913042
MSV3drs121913042
GWAS Ctlgrs121913042
Max Magnitude0
OMIM131222
Desc
Variant0014
Relatedalso
ClinVar
Risk rs121913042(C;C)
Alt rs121913042(C;C)
Reference rs121913042(T;T)
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.50965079A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000018146.28,