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rs121913038

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121913038(A;A)
Make rs121913038(A;G)
ReferenceGRCh38 38.1/141
Chromosome22
Position50528571
GeneTYMP
is asnp
is mentioned by
dbSNPrs121913038
ebirs121913038
HLIrs121913038
Exacrs121913038
Varsomers121913038
Maprs121913038
PheGenIrs121913038
hapmaprs121913038
1000 genomesrs121913038
hgdprs121913038
ensemblrs121913038
gopubmedrs121913038
geneviewrs121913038
scholarrs121913038
googlers121913038
pharmgkbrs121913038
gwascentralrs121913038
openSNPrs121913038
23andMers121913038
23andMe allrs121913038
SNP Nexus

SNPshotrs121913038
SNPdbers121913038
MSV3drs121913038
GWAS Ctlgrs121913038
Max Magnitude0
OMIM131222
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121913038(A;A)
Alt rs121913038(A;A)
Reference rs121913038(G;G)
Significance Pathogenic
Disease Mitochondrial DNA depletion syndrome 1 (MNGIE type)
Variation info
Gene TYMP
CLNDBN Mitochondrial DNA depletion syndrome 1 (MNGIE type)
Reversed 1
HGVS NC_000022.10:g.50967000C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018140.28,