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rs121913040

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121913040(C;C)
Make rs121913040(C;G)
ReferenceGRCh38 38.1/141
Chromosome22
Position50526474
GeneSCO2, TYMP
is asnp
is mentioned by
dbSNPrs121913040
ebirs121913040
HLIrs121913040
Exacrs121913040
Varsomers121913040
Maprs121913040
PheGenIrs121913040
hapmaprs121913040
1000 genomesrs121913040
hgdprs121913040
ensemblrs121913040
gopubmedrs121913040
geneviewrs121913040
scholarrs121913040
googlers121913040
pharmgkbrs121913040
gwascentralrs121913040
openSNPrs121913040
23andMers121913040
23andMe allrs121913040
SNP Nexus

SNPshotrs121913040
SNPdbers121913040
MSV3drs121913040
GWAS Ctlgrs121913040
Max Magnitude0
OMIM131222
Desc
Variant0012
Relatedalso
ClinVar
Risk rs121913040(A,C;A,C)
Alt rs121913040(A,C;A,C)
Reference rs121913040(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.50964903C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000018144.28,