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rs121965048

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121965048(A;A)
Make rs121965048(A;C)
ReferenceGRCh38 38.1/141
Chromosome10
Position124412010
GeneOAT
is asnp
is mentioned by
dbSNPrs121965048
ebirs121965048
HLIrs121965048
Exacrs121965048
Varsomers121965048
Maprs121965048
PheGenIrs121965048
hapmaprs121965048
1000 genomesrs121965048
hgdprs121965048
ensemblrs121965048
gopubmedrs121965048
geneviewrs121965048
scholarrs121965048
googlers121965048
pharmgkbrs121965048
gwascentralrs121965048
openSNPrs121965048
23andMers121965048
23andMe allrs121965048
SNP Nexus

SNPshotrs121965048
SNPdbers121965048
MSV3drs121965048
GWAS Ctlgrs121965048
Max Magnitude0
OMIM613349
Desc
Variant0019
Relatedalso
ClinVar
Risk rs121965048(A;A)
Alt rs121965048(A;A)
Reference rs121965048(C;C)
Significance Pathogenic
Disease Ornithine aminotransferase deficiency
Variation info
Gene OAT
CLNDBN Ornithine aminotransferase deficiency
Reversed 1
HGVS NC_000010.10:g.126100579G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000186.2,