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rs121965053

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121965053(A;A)
Make rs121965053(A;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position124400941
GeneOAT
is asnp
is mentioned by
dbSNPrs121965053
ebirs121965053
HLIrs121965053
Exacrs121965053
Varsomers121965053
Maprs121965053
PheGenIrs121965053
hapmaprs121965053
1000 genomesrs121965053
hgdprs121965053
ensemblrs121965053
gopubmedrs121965053
geneviewrs121965053
scholarrs121965053
googlers121965053
pharmgkbrs121965053
gwascentralrs121965053
openSNPrs121965053
23andMers121965053
23andMe allrs121965053
SNP Nexus

SNPshotrs121965053
SNPdbers121965053
MSV3drs121965053
GWAS Ctlgrs121965053
Max Magnitude0
OMIM613349
Desc
Variant0027
Relatedalso
ClinVar
Risk rs121965053(A;A)
Alt rs121965053(A;A)
Reference rs121965053(G;G)
Significance Pathogenic
Disease Ornithine aminotransferase deficiency
Variation info
Gene OAT
CLNDBN Ornithine aminotransferase deficiency
Reversed 1
HGVS NC_000010.10:g.126089510C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000193.2,