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rs121965036

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121965036(C;T)
Make rs121965036(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position124398076
GeneOAT
is asnp
is mentioned by
dbSNPrs121965036
dbSNP (classic)rs121965036
ClinGenrs121965036
ebirs121965036
HLIrs121965036
Exacrs121965036
Gnomadrs121965036
Varsomers121965036
LitVarrs121965036
Maprs121965036
PheGenIrs121965036
Biobankrs121965036
1000 genomesrs121965036
hgdprs121965036
ensemblrs121965036
geneviewrs121965036
scholarrs121965036
googlers121965036
pharmgkbrs121965036
gwascentralrs121965036
openSNPrs121965036
23andMers121965036
SNPshotrs121965036
SNPdbers121965036
MSV3drs121965036
GWAS Ctlgrs121965036
Max Magnitude0
OMIM613349
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121965036(G;G) rs121965036(T;T)
Alt rs121965036(G;G) rs121965036(T;T)
Reference Rs121965036(C;C)
Significance Pathogenic
Disease Ornithine aminotransferase deficiency
Variation info
Gene OAT
CLNDBN Ornithine aminotransferase deficiency
Reversed 1
HGVS NC_000010.10:g.126086645G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000172.3,