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rs66693137

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs66693137(A;A)
Make rs66693137(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position38367430
GeneOTC
is asnp
is mentioned by
dbSNPrs66693137
ebirs66693137
HLIrs66693137
Exacrs66693137
Varsomers66693137
Maprs66693137
PheGenIrs66693137
hapmaprs66693137
1000 genomesrs66693137
hgdprs66693137
ensemblrs66693137
gopubmedrs66693137
geneviewrs66693137
scholarrs66693137
googlers66693137
pharmgkbrs66693137
gwascentralrs66693137
openSNPrs66693137
23andMers66693137
23andMe allrs66693137
SNP Nexus

SNPshotrs66693137
SNPdbers66693137
MSV3drs66693137
GWAS Ctlgrs66693137
Max Magnitude0
ClinVar
Risk rs66693137(A,T;A,T)
Alt rs66693137(A,T;A,T)
Reference rs66693137(G;G)
Significance Pathogenic
Disease not provided
Variation info
Gene OTC
CLNDBN not provided
Reversed 0
HGVS NC_000023.10:g.38226683G>A; NC_000023.10:g.38226683G>T
CLNSRC ClinVar
CLNACC RCV000083363.1, RCV000083364.1,



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


[PMID 12175783] Ornithine transcarbamylase deficiency: a novel splice site mutation in a family with meiotic recombination and a new useful SNP for diagnosis.