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rs786205097

From SNPedia

Orientationminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs786205097(-;-)
Make rs786205097(-;C)
Make rs786205097(C;C)
ReferenceGRCh38.p2 38.2/146
Chromosome22
Position50525808
GeneSCO2, TYMP
is asnp
is mentioned by
dbSNPrs786205097
ebirs786205097
HLIrs786205097
Exacrs786205097
Varsomers786205097
Maprs786205097
PheGenIrs786205097
hapmaprs786205097
1000 genomesrs786205097
hgdprs786205097
ensemblrs786205097
gopubmedrs786205097
geneviewrs786205097
scholarrs786205097
googlers786205097
pharmgkbrs786205097
gwascentralrs786205097
openSNPrs786205097
23andMers786205097
23andMe allrs786205097
SNP Nexus

SNPshotrs786205097
SNPdbers786205097
MSV3drs786205097
GWAS Ctlgrs786205097
Max Magnitude0
ClinVar
Risk rs786205097(C;C)
Alt rs786205097(C;C)
Reference rs786205097(;)
Significance Pathogenic
Disease Mitochondrial DNA depletion syndrome 1 (MNGIE type)
Variation info
Gene SCO2 TYMP
CLNDBN Mitochondrial DNA depletion syndrome 1 (MNGIE type)
Reversed 1
HGVS NC_000022.10:g.50964238dupG
CLNSRC OMIM Allelic Variant
CLNACC RCV000018137.25,