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rs121965035

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GCT;GCT) 0 common in clinvar
Make rs121965035(-;-)
Make rs121965035(-;GCT)
ReferenceGRCh38 38.1/141
Chromosome10
Position124405532
GeneOAT
is asnp
is mentioned by
dbSNPrs121965035
ebirs121965035
HLIrs121965035
Exacrs121965035
Varsomers121965035
Maprs121965035
PheGenIrs121965035
hapmaprs121965035
1000 genomesrs121965035
hgdprs121965035
ensemblrs121965035
gopubmedrs121965035
geneviewrs121965035
scholarrs121965035
googlers121965035
pharmgkbrs121965035
gwascentralrs121965035
openSNPrs121965035
23andMers121965035
23andMe allrs121965035
SNP Nexus

SNPshotrs121965035
SNPdbers121965035
MSV3drs121965035
GWAS Ctlgrs121965035
Max Magnitude0
OMIM613349
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121965035(;)
Alt rs121965035(;)
Reference rs121965035(GCT;GCT)
Significance Pathogenic
Disease Ornithine aminotransferase deficiency
Variation info
Gene OAT
CLNDBN Ornithine aminotransferase deficiency
Reversed 1
HGVS NC_000010.10:g.126094101_126094103delAGC
CLNSRC OMIM Allelic Variant
CLNACC RCV000000171.2,