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rs121913036

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121913036(A;C)
Make rs121913036(C;C)
ReferenceGRCh38 38.1/141
Chromosome22
Position50526638
GeneSCO2, TYMP
is asnp
is mentioned by
dbSNPrs121913036
ebirs121913036
HLIrs121913036
Exacrs121913036
Varsomers121913036
Maprs121913036
PheGenIrs121913036
hapmaprs121913036
1000 genomesrs121913036
hgdprs121913036
ensemblrs121913036
gopubmedrs121913036
geneviewrs121913036
scholarrs121913036
googlers121913036
pharmgkbrs121913036
gwascentralrs121913036
openSNPrs121913036
23andMers121913036
23andMe allrs121913036
SNP Nexus

SNPshotrs121913036
SNPdbers121913036
MSV3drs121913036
GWAS Ctlgrs121913036
Max Magnitude0
OMIM131222
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121913036(C;C)
Alt rs121913036(C;C)
Reference rs121913036(A;A)
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.50965067T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000018133.27,