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rs1064792864

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Chromosome22
Position50528550
GeneTYMP
is asnp
is mentioned by
dbSNPrs1064792864
dbSNP (old)rs1064792864
ClinGenrs1064792864
ebirs1064792864
HLIrs1064792864
Exacrs1064792864
Gnomadrs1064792864
Varsomers1064792864
Maprs1064792864
PheGenIrs1064792864
Biobankrs1064792864
1000 genomesrs1064792864
hgdprs1064792864
ensemblrs1064792864
gopubmedrs1064792864
geneviewrs1064792864
scholarrs1064792864
googlers1064792864
pharmgkbrs1064792864
gwascentralrs1064792864
openSNPrs1064792864
23andMers1064792864
23andMe allrs1064792864
SNPshotrs1064792864
SNPdbers1064792864
MSV3drs1064792864
GWAS Ctlgrs1064792864
Max Magnitude0
ClinVar
Risk rs1064792864(C;C)
Alt rs1064792864(C;C)
Reference Rs1064792864(T;T)
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.50966979A>G
CLNSRC
CLNACC RCV000208643.1,