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rs1064792858

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Chromosome22
Position50529548
GeneTYMP
is asnp
is mentioned by
dbSNPrs1064792858
dbSNP (old)rs1064792858
ClinGenrs1064792858
ebirs1064792858
HLIrs1064792858
Exacrs1064792858
Gnomadrs1064792858
Varsomers1064792858
Maprs1064792858
PheGenIrs1064792858
Biobankrs1064792858
1000 genomesrs1064792858
hgdprs1064792858
ensemblrs1064792858
gopubmedrs1064792858
geneviewrs1064792858
scholarrs1064792858
googlers1064792858
pharmgkbrs1064792858
gwascentralrs1064792858
openSNPrs1064792858
23andMers1064792858
23andMe allrs1064792858
SNPshotrs1064792858
SNPdbers1064792858
MSV3drs1064792858
GWAS Ctlgrs1064792858
Max Magnitude0
ClinVar
Risk rs1064792858(G;G)
Alt rs1064792858(G;G)
Reference Rs1064792858(C;C)
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.50967977G>C
CLNSRC
CLNACC RCV000208614.1,