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rs121965056

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121965056(A;A)
Make rs121965056(A;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position124405457
GeneOAT
is asnp
is mentioned by
dbSNPrs121965056
ebirs121965056
HLIrs121965056
Exacrs121965056
Varsomers121965056
Maprs121965056
PheGenIrs121965056
hapmaprs121965056
1000 genomesrs121965056
hgdprs121965056
ensemblrs121965056
gopubmedrs121965056
geneviewrs121965056
scholarrs121965056
googlers121965056
pharmgkbrs121965056
gwascentralrs121965056
openSNPrs121965056
23andMers121965056
23andMe allrs121965056
SNP Nexus

SNPshotrs121965056
SNPdbers121965056
MSV3drs121965056
GWAS Ctlgrs121965056
Max Magnitude0
OMIM613349
Desc
Variant0032
Relatedalso
ClinVar
Risk rs121965056(A;A)
Alt rs121965056(A;A)
Reference rs121965056(T;T)
Significance Pathogenic
Disease Ornithine aminotransferase deficiency
Variation info
Gene OAT
CLNDBN Ornithine aminotransferase deficiency
Reversed 1
HGVS NC_000010.10:g.126094026A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000198.2,