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rs121965057

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121965057(C;G)
Make rs121965057(G;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position124402930
GeneOAT
is asnp
is mentioned by
dbSNPrs121965057
ebirs121965057
HLIrs121965057
Exacrs121965057
Varsomers121965057
Maprs121965057
PheGenIrs121965057
hapmaprs121965057
1000 genomesrs121965057
hgdprs121965057
ensemblrs121965057
gopubmedrs121965057
geneviewrs121965057
scholarrs121965057
googlers121965057
pharmgkbrs121965057
gwascentralrs121965057
openSNPrs121965057
23andMers121965057
23andMe allrs121965057
SNP Nexus

SNPshotrs121965057
SNPdbers121965057
MSV3drs121965057
GWAS Ctlgrs121965057
Max Magnitude0
OMIM613349
Desc
Variant0033
Relatedalso
ClinVar
Risk rs121965057(G;G)
Alt rs121965057(G;G)
Reference rs121965057(C;C)
Significance Pathogenic
Disease Ornithine aminotransferase deficiency
Variation info
Gene OAT
CLNDBN Ornithine aminotransferase deficiency
Reversed 1
HGVS NC_000010.10:g.126091499G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000000199.2,