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rs1800324

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 8.2 Ornithine Transcarbamylase Deficiency
(C;T) 3 Carrier of an ornithine carbamoyltransferase mutation
(T;T) 0 common in clinvar
ReferenceGRCh38 38.1/141
ChromosomeX
Position38381375
GeneOTC
is asnp
is mentioned by
dbSNPrs1800324
dbSNP (classic)rs1800324
ClinGenrs1800324
ebirs1800324
HLIrs1800324
Exacrs1800324
Gnomadrs1800324
Varsomers1800324
LitVarrs1800324
Maprs1800324
PheGenIrs1800324
Biobankrs1800324
1000 genomesrs1800324
hgdprs1800324
ensemblrs1800324
geneviewrs1800324
scholarrs1800324
googlers1800324
pharmgkbrs1800324
gwascentralrs1800324
openSNPrs1800324
23andMers1800324
SNPshotrs1800324
SNPdbers1800324
MSV3drs1800324
GWAS Ctlgrs1800324
Max Magnitude8.2
ClinVar
Risk Rs1800324(C;C)
Alt Rs1800324(C;C)
Reference Rs1800324(T;T)
Significance Pathogenic
Disease Ornithine carbamoyltransferase deficiency
Variation info
Gene OTC
CLNDBN Ornithine carbamoyltransferase deficiency
Reversed 0
HGVS NC_000023.10:g.38240628T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000011736.3,