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rs68170503

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs68170503(A;A)
Make rs68170503(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position38403741
GeneOTC
is asnp
is mentioned by
dbSNPrs68170503
ebirs68170503
HLIrs68170503
Exacrs68170503
Varsomers68170503
Maprs68170503
PheGenIrs68170503
hapmaprs68170503
1000 genomesrs68170503
hgdprs68170503
ensemblrs68170503
gopubmedrs68170503
geneviewrs68170503
scholarrs68170503
googlers68170503
pharmgkbrs68170503
gwascentralrs68170503
openSNPrs68170503
23andMers68170503
23andMe allrs68170503
SNP Nexus

SNPshotrs68170503
SNPdbers68170503
MSV3drs68170503
GWAS Ctlgrs68170503
Max Magnitude0
ClinVar
Risk rs68170503(A,T;A,T)
Alt rs68170503(A,T;A,T)
Reference rs68170503(G;G)
Significance Pathogenic
Disease not provided
Variation info
Gene OTC
CLNDBN not provided
Reversed 0
HGVS NC_000023.10:g.38262994G>A; NC_000023.10:g.38262994G>T
CLNSRC ClinVar
CLNACC RCV000083527.1, RCV000083528.1,



[PMID 9266388] Identification of 'private' mutations in patients with ornithine transcarbamylase deficiency.


[PMID 8566955] Identification of four novel splice site mutations in the ornithine transcarbamylase gene.