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rs121965055

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121965055(G;T)
Make rs121965055(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position124398061
GeneOAT
is asnp
is mentioned by
dbSNPrs121965055
dbSNP (classic)rs121965055
ClinGenrs121965055
ebirs121965055
HLIrs121965055
Exacrs121965055
Gnomadrs121965055
Varsomers121965055
LitVarrs121965055
Maprs121965055
PheGenIrs121965055
Biobankrs121965055
1000 genomesrs121965055
hgdprs121965055
ensemblrs121965055
geneviewrs121965055
scholarrs121965055
googlers121965055
pharmgkbrs121965055
gwascentralrs121965055
openSNPrs121965055
23andMers121965055
SNPshotrs121965055
SNPdbers121965055
MSV3drs121965055
GWAS Ctlgrs121965055
Max Magnitude0
OMIM613349
Desc
Variant0030
Relatedalso
ClinVar
Risk rs121965055(T;T)
Alt rs121965055(T;T)
Reference Rs121965055(G;G)
Significance Pathogenic
Disease Ornithine aminotransferase deficiency
Variation info
Gene OAT
CLNDBN Ornithine aminotransferase deficiency
Reversed 1
HGVS NC_000010.10:g.126086630C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000196.2,