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rs121965049

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121965049(C;T)
Make rs121965049(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position124401785
GeneOAT
is asnp
is mentioned by
dbSNPrs121965049
ebirs121965049
HLIrs121965049
Exacrs121965049
Varsomers121965049
Maprs121965049
PheGenIrs121965049
hapmaprs121965049
1000 genomesrs121965049
hgdprs121965049
ensemblrs121965049
gopubmedrs121965049
geneviewrs121965049
scholarrs121965049
googlers121965049
pharmgkbrs121965049
gwascentralrs121965049
openSNPrs121965049
23andMers121965049
23andMe allrs121965049
SNP Nexus

SNPshotrs121965049
SNPdbers121965049
MSV3drs121965049
GWAS Ctlgrs121965049
Max Magnitude0
OMIM613349
Desc
Variant0020
Relatedalso
ClinVar
Risk rs121965049(T;T)
Alt rs121965049(T;T)
Reference rs121965049(C;C)
Significance Pathogenic
Disease Ornithine aminotransferase deficiency
Variation info
Gene OAT
CLNDBN Ornithine aminotransferase deficiency
Reversed 1
HGVS NC_000010.10:g.126090354G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000187.2,