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rs67283833

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs67283833(A;T)
Make rs67283833(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position38408794
GeneOTC
is asnp
is mentioned by
dbSNPrs67283833
dbSNP (classic)rs67283833
ClinGenrs67283833
ebirs67283833
HLIrs67283833
Exacrs67283833
Gnomadrs67283833
Varsomers67283833
LitVarrs67283833
Maprs67283833
PheGenIrs67283833
Biobankrs67283833
1000 genomesrs67283833
hgdprs67283833
ensemblrs67283833
geneviewrs67283833
scholarrs67283833
googlers67283833
pharmgkbrs67283833
gwascentralrs67283833
openSNPrs67283833
23andMers67283833
SNPshotrs67283833
SNPdbers67283833
MSV3drs67283833
GWAS Ctlgrs67283833
Max Magnitude0
ClinVar
Risk rs67283833(G;G) rs67283833(T;T)
Alt rs67283833(G;G) rs67283833(T;T)
Reference Rs67283833(A;A)
Significance Pathogenic
Disease not provided
Variation info
Gene OTC
CLNDBN not provided
Reversed 0
HGVS NC_000023.10:g.38268047A>G; NC_000023.10:g.38268047A>T
CLNSRC ClinVar
CLNACC RCV000083540.1, RCV000083541.1,


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