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rs121965038

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121965038(G;T)
Make rs121965038(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position124408887
GeneOAT
is asnp
is mentioned by
dbSNPrs121965038
dbSNP (classic)rs121965038
ClinGenrs121965038
ebirs121965038
HLIrs121965038
Exacrs121965038
Gnomadrs121965038
Varsomers121965038
LitVarrs121965038
Maprs121965038
PheGenIrs121965038
Biobankrs121965038
1000 genomesrs121965038
hgdprs121965038
ensemblrs121965038
geneviewrs121965038
scholarrs121965038
googlers121965038
pharmgkbrs121965038
gwascentralrs121965038
openSNPrs121965038
23andMers121965038
SNPshotrs121965038
SNPdbers121965038
MSV3drs121965038
GWAS Ctlgrs121965038
Max Magnitude0
OMIM613349
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121965038(T;T)
Alt rs121965038(T;T)
Reference Rs121965038(G;G)
Significance Pathogenic
Disease Ornithine aminotransferase deficiency
Variation info
Gene OAT
CLNDBN Ornithine aminotransferase deficiency
Reversed 1
HGVS NC_000010.10:g.126097456C>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000000174.2,