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rs67752076

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs67752076(A;G)
Make rs67752076(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position38352697
GeneOTC
is asnp
is mentioned by
dbSNPrs67752076
ebirs67752076
HLIrs67752076
Exacrs67752076
Varsomers67752076
Maprs67752076
PheGenIrs67752076
hapmaprs67752076
1000 genomesrs67752076
hgdprs67752076
ensemblrs67752076
gopubmedrs67752076
geneviewrs67752076
scholarrs67752076
googlers67752076
pharmgkbrs67752076
gwascentralrs67752076
openSNPrs67752076
23andMers67752076
23andMe allrs67752076
SNP Nexus

SNPshotrs67752076
SNPdbers67752076
MSV3drs67752076
GWAS Ctlgrs67752076
Max Magnitude0
ClinVar
Risk rs67752076(G,T;G,T)
Alt rs67752076(G,T;G,T)
Reference rs67752076(A;A)
Significance Pathogenic
Disease not provided
Variation info
Gene OTC
CLNDBN not provided
Reversed 0
HGVS NC_000023.10:g.38211950A>G; NC_000023.10:g.38211950A>T
CLNSRC ClinVar
CLNACC RCV000083359.1, RCV000083360.1,



[PMID 9143919] Ornithine transcarbamylase deficiency: ten new mutations and high proportion of de novo mutations in heterozygous females.


[PMID 16786505] Mutations and polymorphisms in the human ornithine transcarbamylase (OTC) gene.