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rs72554338

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs72554338(A;A)
Make rs72554338(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position38369838
GeneOTC
is asnp
is mentioned by
dbSNPrs72554338
ebirs72554338
HLIrs72554338
Exacrs72554338
Varsomers72554338
Maprs72554338
PheGenIrs72554338
hapmaprs72554338
1000 genomesrs72554338
hgdprs72554338
ensemblrs72554338
gopubmedrs72554338
geneviewrs72554338
scholarrs72554338
googlers72554338
pharmgkbrs72554338
gwascentralrs72554338
openSNPrs72554338
23andMers72554338
23andMe allrs72554338
SNP Nexus

SNPshotrs72554338
SNPdbers72554338
MSV3drs72554338
GWAS Ctlgrs72554338
Max Magnitude0
ClinVar
Risk rs72554338(A;A)
Alt rs72554338(A;A)
Reference rs72554338(G;G)
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.38229091G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000011748.5, RCV000083376.1,



[PMID 1353535OA-icon.png] Site specific screening for point mutations in ornithine transcarbamylase deficiency.