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rs67916658

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs67916658(A;A)
Make rs67916658(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position38421022
GeneOTC
is asnp
is mentioned by
dbSNPrs67916658
ebirs67916658
HLIrs67916658
Exacrs67916658
Varsomers67916658
Maprs67916658
PheGenIrs67916658
hapmaprs67916658
1000 genomesrs67916658
hgdprs67916658
ensemblrs67916658
gopubmedrs67916658
geneviewrs67916658
scholarrs67916658
googlers67916658
pharmgkbrs67916658
gwascentralrs67916658
openSNPrs67916658
23andMers67916658
23andMe allrs67916658
SNP Nexus

SNPshotrs67916658
SNPdbers67916658
MSV3drs67916658
GWAS Ctlgrs67916658
Max Magnitude0
ClinVar
Risk rs67916658(A;A)
Alt rs67916658(A;A)
Reference rs67916658(G;G)
Significance Pathogenic
Disease not provided
Variation info
Gene OTC
CLNDBN not provided
Reversed 0
HGVS NC_000023.10:g.38280275G>A
CLNSRC ClinVar
CLNACC RCV000083316.1,


[PMID 11793468] Mutations and polymorphisms in the human ornithine transcarbamylase gene.


[PMID 14705115] Metabolic and neuropsychological phenotype in women heterozygous for ornithine transcarbamylase deficiency.