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rs121965052

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121965052(C;C)
Make rs121965052(C;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position124403820
GeneOAT
is asnp
is mentioned by
dbSNPrs121965052
ebirs121965052
HLIrs121965052
Exacrs121965052
Varsomers121965052
Maprs121965052
PheGenIrs121965052
hapmaprs121965052
1000 genomesrs121965052
hgdprs121965052
ensemblrs121965052
gopubmedrs121965052
geneviewrs121965052
scholarrs121965052
googlers121965052
pharmgkbrs121965052
gwascentralrs121965052
openSNPrs121965052
23andMers121965052
23andMe allrs121965052
SNP Nexus

SNPshotrs121965052
SNPdbers121965052
MSV3drs121965052
GWAS Ctlgrs121965052
Max Magnitude0
OMIM613349
Desc
Variant0026
Relatedalso
ClinVar
Risk rs121965052(A,C;A,C)
Alt rs121965052(A,C;A,C)
Reference rs121965052(G;G)
Significance Pathogenic
Disease Ornithine aminotransferase deficiency
Variation info
Gene OAT
CLNDBN Ornithine aminotransferase deficiency
Reversed 1
HGVS NC_000010.10:g.126092389C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000000192.2,