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rs72558412

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs72558412(G;G)
Make rs72558412(G;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position38403694
GeneOTC
is asnp
is mentioned by
dbSNPrs72558412
ebirs72558412
HLIrs72558412
Exacrs72558412
Varsomers72558412
Maprs72558412
PheGenIrs72558412
hapmaprs72558412
1000 genomesrs72558412
hgdprs72558412
ensemblrs72558412
gopubmedrs72558412
geneviewrs72558412
scholarrs72558412
googlers72558412
pharmgkbrs72558412
gwascentralrs72558412
openSNPrs72558412
23andMers72558412
23andMe allrs72558412
SNP Nexus

SNPshotrs72558412
SNPdbers72558412
MSV3drs72558412
GWAS Ctlgrs72558412
Max Magnitude0
ClinVar
Risk rs72558412(G;G)
Alt rs72558412(G;G)
Reference rs72558412(T;T)
Significance Pathogenic
Disease Ornithine carbamoyltransferase deficiency not provided
Variation info
Gene OTC
CLNDBN Ornithine carbamoyltransferase deficiency not provided
Reversed 0
HGVS NC_000023.10:g.38262947T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000011759.5, RCV000083513.1,



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