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rs72554332

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs72554332(A;G)
Make rs72554332(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position38369817
GeneOTC
is asnp
is mentioned by
dbSNPrs72554332
dbSNP (classic)rs72554332
ClinGenrs72554332
ebirs72554332
HLIrs72554332
Exacrs72554332
Gnomadrs72554332
Varsomers72554332
LitVarrs72554332
Maprs72554332
PheGenIrs72554332
Biobankrs72554332
1000 genomesrs72554332
hgdprs72554332
ensemblrs72554332
geneviewrs72554332
scholarrs72554332
googlers72554332
pharmgkbrs72554332
gwascentralrs72554332
openSNPrs72554332
23andMers72554332
SNPshotrs72554332
SNPdbers72554332
MSV3drs72554332
GWAS Ctlgrs72554332
Max Magnitude0
ClinVar
Risk rs72554332(G;G)
Alt rs72554332(G;G)
Reference Rs72554332(A;A)
Significance Pathogenic
Disease not provided Ornithine carbamoyltransferase deficiency
Variation info
Gene OTC
CLNDBN not provided Ornithine carbamoyltransferase deficiency
Reversed 0
HGVS NC_000023.10:g.38229070A>G
CLNSRC HGMD
CLNACC RCV000079083.4, RCV000177080.1,