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rs121965045

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121965045(C;C)
Make rs121965045(C;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position124400875
GeneOAT
is asnp
is mentioned by
dbSNPrs121965045
ebirs121965045
HLIrs121965045
Exacrs121965045
Varsomers121965045
Maprs121965045
PheGenIrs121965045
hapmaprs121965045
1000 genomesrs121965045
hgdprs121965045
ensemblrs121965045
gopubmedrs121965045
geneviewrs121965045
scholarrs121965045
googlers121965045
pharmgkbrs121965045
gwascentralrs121965045
openSNPrs121965045
23andMers121965045
23andMe allrs121965045
SNP Nexus

SNPshotrs121965045
SNPdbers121965045
MSV3drs121965045
GWAS Ctlgrs121965045
Max Magnitude0
OMIM613349
Desc
Variant0014
Relatedalso
ClinVar
Risk rs121965045(C;C)
Alt rs121965045(C;C)
Reference rs121965045(G;G)
Significance Pathogenic
Disease Ornithine aminotransferase deficiency
Variation info
Gene OAT
CLNDBN Ornithine aminotransferase deficiency
Reversed 1
HGVS NC_000010.10:g.126089444C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000000182.2,