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rs786205098

From SNPedia

Orientationminus
Geno Mag Summary
(CGCTGG;CGCTGG) 0 common in clinvar
Make rs786205098(-;-)
Make rs786205098(-;CGCTGG)
ReferenceGRCh38.p2 38.2/146
Chromosome22
Position50526103
GeneSCO2, TYMP
is asnp
is mentioned by
dbSNPrs786205098
ebirs786205098
HLIrs786205098
Exacrs786205098
Varsomers786205098
Maprs786205098
PheGenIrs786205098
hapmaprs786205098
1000 genomesrs786205098
hgdprs786205098
ensemblrs786205098
gopubmedrs786205098
geneviewrs786205098
scholarrs786205098
googlers786205098
pharmgkbrs786205098
gwascentralrs786205098
openSNPrs786205098
23andMers786205098
23andMe allrs786205098
SNP Nexus

SNPshotrs786205098
SNPdbers786205098
MSV3drs786205098
GWAS Ctlgrs786205098
Max Magnitude0
ClinVar
Risk rs786205098(;)
Alt rs786205098(;)
Reference rs786205098(CGCTGG;CGCTGG)
Significance Pathogenic
Disease Mitochondrial DNA depletion syndrome 1 (MNGIE type)
Variation info
Gene TYMP SCO2
CLNDBN Mitochondrial DNA depletion syndrome 1 (MNGIE type)
Reversed 1
HGVS NC_000022.10:g.50964532_50964537delCCAGCG
CLNSRC OMIM Allelic Variant
CLNACC RCV000018139.28,