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rs121965060

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121965060(C;G)
Make rs121965060(G;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position124408897
GeneOAT
is asnp
is mentioned by
dbSNPrs121965060
ebirs121965060
HLIrs121965060
Exacrs121965060
Varsomers121965060
Maprs121965060
PheGenIrs121965060
hapmaprs121965060
1000 genomesrs121965060
hgdprs121965060
ensemblrs121965060
gopubmedrs121965060
geneviewrs121965060
scholarrs121965060
googlers121965060
pharmgkbrs121965060
gwascentralrs121965060
openSNPrs121965060
23andMers121965060
23andMe allrs121965060
SNP Nexus

SNPshotrs121965060
SNPdbers121965060
MSV3drs121965060
GWAS Ctlgrs121965060
Max Magnitude0
OMIM613349
Desc
Variant0039
Relatedalso
ClinVar
Risk rs121965060(G;G)
Alt rs121965060(G;G)
Reference rs121965060(C;C)
Significance Pathogenic
Disease Ornithine aminotransferase deficiency
Variation info
Gene OAT
CLNDBN Ornithine aminotransferase deficiency
Reversed 1
HGVS NC_000010.10:g.126097466G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000000205.2,