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rs121965040

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121965040(C;C)
Make rs121965040(C;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position124405545
GeneOAT
is asnp
is mentioned by
dbSNPrs121965040
ebirs121965040
HLIrs121965040
Exacrs121965040
Varsomers121965040
Maprs121965040
PheGenIrs121965040
hapmaprs121965040
1000 genomesrs121965040
hgdprs121965040
ensemblrs121965040
gopubmedrs121965040
geneviewrs121965040
scholarrs121965040
googlers121965040
pharmgkbrs121965040
gwascentralrs121965040
openSNPrs121965040
23andMers121965040
23andMe allrs121965040
SNP Nexus

SNPshotrs121965040
SNPdbers121965040
MSV3drs121965040
GWAS Ctlgrs121965040
Max Magnitude0
OMIM613349
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121965040(C;C)
Alt rs121965040(C;C)
Reference rs121965040(G;G)
Significance Pathogenic
Disease Ornithine aminotransferase deficiency
Variation info
Gene OAT
CLNDBN Ornithine aminotransferase deficiency
Reversed 1
HGVS NC_000010.10:g.126094114C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000000176.2,