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rs121965054

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121965054(C;C)
Make rs121965054(C;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position124398082
GeneOAT
is asnp
is mentioned by
dbSNPrs121965054
ebirs121965054
HLIrs121965054
Exacrs121965054
Varsomers121965054
Maprs121965054
PheGenIrs121965054
hapmaprs121965054
1000 genomesrs121965054
hgdprs121965054
ensemblrs121965054
gopubmedrs121965054
geneviewrs121965054
scholarrs121965054
googlers121965054
pharmgkbrs121965054
gwascentralrs121965054
openSNPrs121965054
23andMers121965054
23andMe allrs121965054
SNP Nexus

SNPshotrs121965054
SNPdbers121965054
MSV3drs121965054
GWAS Ctlgrs121965054
Max Magnitude0
OMIM613349
Desc
Variant0029
Relatedalso
ClinVar
Risk rs121965054(C;C)
Alt rs121965054(C;C)
Reference rs121965054(T;T)
Significance Pathogenic
Disease Ornithine aminotransferase deficiency
Variation info
Gene OAT
CLNDBN Ornithine aminotransferase deficiency
Reversed 1
HGVS NC_000010.10:g.126086651A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000000195.2,