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rs797044454

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs797044454(C;C)
Make rs797044454(C;T)
ReferenceGRCh38.p2 38.2/147
Chromosome22
Position50528510
GeneTYMP
is asnp
is mentioned by
dbSNPrs797044454
ebirs797044454
HLIrs797044454
Exacrs797044454
Varsomers797044454
Maprs797044454
PheGenIrs797044454
hapmaprs797044454
1000 genomesrs797044454
hgdprs797044454
ensemblrs797044454
gopubmedrs797044454
geneviewrs797044454
scholarrs797044454
googlers797044454
pharmgkbrs797044454
gwascentralrs797044454
openSNPrs797044454
23andMers797044454
23andMe allrs797044454
SNP Nexus

SNPshotrs797044454
SNPdbers797044454
MSV3drs797044454
GWAS Ctlgrs797044454
Max Magnitude0
ClinVar
Risk rs797044454(A,C;A,C)
Alt rs797044454(A,C;A,C)
Reference rs797044454(T;T)
Significance Pathogenic
Disease Mitochondrial DNA depletion syndrome 1 (MNGIE type) not provided
Variation info
Gene TYMP
CLNDBN Mitochondrial DNA depletion syndrome 1 (MNGIE type) not provided
Reversed 1
HGVS NC_000022.10:g.50966939A>G; NC_000022.10:g.50966939A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018134.28, RCV000197259.2,