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rs67414444

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 8.2 Ornithine Transcarbamylase Deficiency
(A;T) 3 Carrier of an ornithine carbamoyltransferase mutation
(T;T) 0 common in clinvar
ReferenceGRCh38 38.1/141
ChromosomeX
Position38411938
GeneOTC
is asnp
is mentioned by
dbSNPrs67414444
dbSNP (classic)rs67414444
ClinGenrs67414444
ebirs67414444
HLIrs67414444
Exacrs67414444
Gnomadrs67414444
Varsomers67414444
LitVarrs67414444
Maprs67414444
PheGenIrs67414444
Biobankrs67414444
1000 genomesrs67414444
hgdprs67414444
ensemblrs67414444
geneviewrs67414444
scholarrs67414444
googlers67414444
pharmgkbrs67414444
gwascentralrs67414444
openSNPrs67414444
23andMers67414444
SNPshotrs67414444
SNPdbers67414444
MSV3drs67414444
GWAS Ctlgrs67414444
Max Magnitude8.2
ClinVar
Risk Rs67414444(A;A) rs67414444(G;G)
Alt Rs67414444(A;A) rs67414444(G;G)
Reference Rs67414444(T;T)
Significance Pathogenic
Disease not provided
Variation info
Gene OTC
CLNDBN not provided
Reversed 0
HGVS NC_000023.10:g.38271191T>A; NC_000023.10:g.38271191T>G
CLNSRC ClinVar
CLNACC RCV000083615.1, RCV000083616.1,



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