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rs28931613

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0
(G;G) 0 common in clinvar
Make rs28931613(A;A)
Make rs28931613(A;G)
ReferenceGRCh38 38.1/141
Chromosome22
Position50529579
GeneTYMP
is asnp
is mentioned by
dbSNPrs28931613
ebirs28931613
HLIrs28931613
Exacrs28931613
Varsomers28931613
Maprs28931613
PheGenIrs28931613
hapmaprs28931613
1000 genomesrs28931613
hgdprs28931613
ensemblrs28931613
gopubmedrs28931613
geneviewrs28931613
scholarrs28931613
googlers28931613
pharmgkbrs28931613
gwascentralrs28931613
openSNPrs28931613
23andMers28931613
23andMe allrs28931613
SNP Nexus

SNPshotrs28931613
SNPdbers28931613
MSV3drs28931613
GWAS Ctlgrs28931613
Max Magnitude0
OMIM131222
DescMITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME
Variant0009
Relatedalso


ClinVar
Risk rs28931613(A;A)
Alt rs28931613(A;A)
Reference rs28931613(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.50968008C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018141.28,