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rs1800328

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1800328(A;C)
Make rs1800328(C;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position38408967
GeneOTC
is asnp
is mentioned by
dbSNPrs1800328
dbSNP (classic)rs1800328
ClinGenrs1800328
ebirs1800328
HLIrs1800328
Exacrs1800328
Gnomadrs1800328
Varsomers1800328
LitVarrs1800328
Maprs1800328
PheGenIrs1800328
Biobankrs1800328
1000 genomesrs1800328
hgdprs1800328
ensemblrs1800328
geneviewrs1800328
scholarrs1800328
googlers1800328
pharmgkbrs1800328
gwascentralrs1800328
openSNPrs1800328
23andMers1800328
SNPshotrs1800328
SNPdbers1800328
MSV3drs1800328
GWAS Ctlgrs1800328
Max Magnitude0
ClinVar
Risk rs1800328(C;C) rs1800328(G;G)
Alt rs1800328(C;C) rs1800328(G;G)
Reference Rs1800328(A;A)
Significance Other
Disease not provided not specified Ornithine carbamoyltransferase deficiency
Variation info
Gene OTC
CLNDBN not provided not specified Ornithine carbamoyltransferase deficiency
Reversed 0
HGVS NC_000023.10:g.38268220A>C; NC_000023.10:g.38268220A>G
CLNSRC UniProtKB (protein)
CLNACC RCV000083583.1, RCV000117884.4, RCV000335039.1,