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rs878853245

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs878853245(C;C)
Make rs878853245(C;T)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position38369833
GeneOTC
is asnp
is mentioned by
dbSNPrs878853245
ebirs878853245
HLIrs878853245
Exacrs878853245
Varsomers878853245
Maprs878853245
PheGenIrs878853245
hapmaprs878853245
1000 genomesrs878853245
hgdprs878853245
ensemblrs878853245
gopubmedrs878853245
geneviewrs878853245
scholarrs878853245
googlers878853245
pharmgkbrs878853245
gwascentralrs878853245
openSNPrs878853245
23andMers878853245
23andMe allrs878853245
SNP Nexus

SNPshotrs878853245
SNPdbers878853245
MSV3drs878853245
GWAS Ctlgrs878853245
Max Magnitude0
ClinVar
Risk rs878853245(C;C)
Alt rs878853245(C;C)
Reference rs878853245(T;T)
Significance Probable-Pathogenic
Disease Ornithine carbamoyltransferase deficiency
Variation info
Gene OTC
CLNDBN Ornithine carbamoyltransferase deficiency
Reversed 0
HGVS NC_000023.10:g.38229086T>C
CLNSRC
CLNACC RCV000225005.1,