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rs121965043

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121965043(C;C)
Make rs121965043(C;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position124398057
GeneOAT
is asnp
is mentioned by
dbSNPrs121965043
ebirs121965043
HLIrs121965043
Exacrs121965043
Varsomers121965043
Maprs121965043
PheGenIrs121965043
hapmaprs121965043
1000 genomesrs121965043
hgdprs121965043
ensemblrs121965043
gopubmedrs121965043
geneviewrs121965043
scholarrs121965043
googlers121965043
pharmgkbrs121965043
gwascentralrs121965043
openSNPrs121965043
23andMers121965043
23andMe allrs121965043
SNP Nexus

SNPshotrs121965043
SNPdbers121965043
MSV3drs121965043
GWAS Ctlgrs121965043
GMAF0.0009183
Max Magnitude0
OMIM613349
Desc
Variant0011
Relatedalso
ClinVar
Risk rs121965043(C;C)
Alt rs121965043(C;C)
Reference rs121965043(T;T)
Significance Pathogenic
Disease Ornithine aminotransferase deficiency
Variation info
Gene OAT
CLNDBN Ornithine aminotransferase deficiency
Reversed 1
HGVS NC_000010.10:g.126086626A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000000179.2,