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rs1064792857

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Chromosome22
Position50529564
GeneTYMP
is asnp
is mentioned by
dbSNPrs1064792857
dbSNP (old)rs1064792857
ClinGenrs1064792857
ebirs1064792857
HLIrs1064792857
Exacrs1064792857
Gnomadrs1064792857
Varsomers1064792857
Maprs1064792857
PheGenIrs1064792857
Biobankrs1064792857
1000 genomesrs1064792857
hgdprs1064792857
ensemblrs1064792857
gopubmedrs1064792857
geneviewrs1064792857
scholarrs1064792857
googlers1064792857
pharmgkbrs1064792857
gwascentralrs1064792857
openSNPrs1064792857
23andMers1064792857
23andMe allrs1064792857
SNPshotrs1064792857
SNPdbers1064792857
MSV3drs1064792857
GWAS Ctlgrs1064792857
Max Magnitude0
ClinVar
Risk rs1064792857(G;G)
Alt rs1064792857(G;G)
Reference Rs1064792857(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.50967993A>C
CLNSRC
CLNACC RCV000208699.1,