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rs121913041

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121913041(C;C)
Make rs121913041(C;G)
ReferenceGRCh38 38.1/141
Chromosome22
Position50527629
GeneSCO2, TYMP
is asnp
is mentioned by
dbSNPrs121913041
ebirs121913041
HLIrs121913041
Exacrs121913041
Varsomers121913041
Maprs121913041
PheGenIrs121913041
hapmaprs121913041
1000 genomesrs121913041
hgdprs121913041
ensemblrs121913041
gopubmedrs121913041
geneviewrs121913041
scholarrs121913041
googlers121913041
pharmgkbrs121913041
gwascentralrs121913041
openSNPrs121913041
23andMers121913041
23andMe allrs121913041
SNP Nexus

SNPshotrs121913041
SNPdbers121913041
MSV3drs121913041
GWAS Ctlgrs121913041
Max Magnitude0
OMIM131222
Desc
Variant0013
Relatedalso
ClinVar
Risk rs121913041(A,C;A,C)
Alt rs121913041(A,C;A,C)
Reference rs121913041(G;G)
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.50966058C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000018145.24,