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rs121965039

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121965039(G;T)
Make rs121965039(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position124408601
GeneOAT
is asnp
is mentioned by
dbSNPrs121965039
ebirs121965039
HLIrs121965039
Exacrs121965039
Varsomers121965039
Maprs121965039
PheGenIrs121965039
hapmaprs121965039
1000 genomesrs121965039
hgdprs121965039
ensemblrs121965039
gopubmedrs121965039
geneviewrs121965039
scholarrs121965039
googlers121965039
pharmgkbrs121965039
gwascentralrs121965039
openSNPrs121965039
23andMers121965039
23andMe allrs121965039
SNP Nexus

SNPshotrs121965039
SNPdbers121965039
MSV3drs121965039
GWAS Ctlgrs121965039
Max Magnitude0
OMIM613349
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121965039(A,T;A,T)
Alt rs121965039(A,T;A,T)
Reference rs121965039(G;G)
Significance Pathogenic
Disease Ornithine aminotransferase deficiency
Variation info
Gene OAT
CLNDBN Ornithine aminotransferase deficiency
Reversed 1
HGVS NC_000010.10:g.126097170C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000175.2,