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rs67890094

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs67890094(G;T)
Make rs67890094(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position38401351
GeneOTC
is asnp
is mentioned by
dbSNPrs67890094
dbSNP (classic)rs67890094
ClinGenrs67890094
ebirs67890094
HLIrs67890094
Exacrs67890094
Gnomadrs67890094
Varsomers67890094
LitVarrs67890094
Maprs67890094
PheGenIrs67890094
Biobankrs67890094
1000 genomesrs67890094
hgdprs67890094
ensemblrs67890094
geneviewrs67890094
scholarrs67890094
googlers67890094
pharmgkbrs67890094
gwascentralrs67890094
openSNPrs67890094
23andMers67890094
SNPshotrs67890094
SNPdbers67890094
MSV3drs67890094
GWAS Ctlgrs67890094
Max Magnitude0
ClinVar
Risk rs67890094(C;C) rs67890094(T;T)
Alt rs67890094(C;C) rs67890094(T;T)
Reference Rs67890094(G;G)
Significance Pathogenic
Disease not provided
Variation info
Gene OTC
CLNDBN not provided
Reversed 0
HGVS NC_000023.10:g.38260604G>C; NC_000023.10:g.38260604G>T
CLNSRC ClinVar
CLNACC RCV000083447.1, RCV000083448.1,



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


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