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rs1064792859

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Chromosome22
Position50529325
GeneTYMP
is asnp
is mentioned by
dbSNPrs1064792859
dbSNP (classic)rs1064792859
ClinGenrs1064792859
ebirs1064792859
HLIrs1064792859
Exacrs1064792859
Gnomadrs1064792859
Varsomers1064792859
LitVarrs1064792859
Maprs1064792859
PheGenIrs1064792859
Biobankrs1064792859
1000 genomesrs1064792859
hgdprs1064792859
ensemblrs1064792859
geneviewrs1064792859
scholarrs1064792859
googlers1064792859
pharmgkbrs1064792859
gwascentralrs1064792859
openSNPrs1064792859
23andMers1064792859
SNPshotrs1064792859
SNPdbers1064792859
MSV3drs1064792859
GWAS Ctlgrs1064792859
Max Magnitude0
ClinVar
Risk rs1064792859(A;A)
Alt rs1064792859(A;A)
Reference Rs1064792859(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.50967754C>T
CLNSRC
CLNACC RCV000208657.1,