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rs121965047

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121965047(A;A)
Make rs121965047(A;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position124401746
GeneOAT
is asnp
is mentioned by
dbSNPrs121965047
ebirs121965047
HLIrs121965047
Exacrs121965047
Varsomers121965047
Maprs121965047
PheGenIrs121965047
hapmaprs121965047
1000 genomesrs121965047
hgdprs121965047
ensemblrs121965047
gopubmedrs121965047
geneviewrs121965047
scholarrs121965047
googlers121965047
pharmgkbrs121965047
gwascentralrs121965047
openSNPrs121965047
23andMers121965047
23andMe allrs121965047
SNP Nexus

SNPshotrs121965047
SNPdbers121965047
MSV3drs121965047
GWAS Ctlgrs121965047
Max Magnitude0
OMIM613349
Desc
Variant0018
Relatedalso
ClinVar
Risk rs121965047(A;A)
Alt rs121965047(A;A)
Reference rs121965047(G;G)
Significance Pathogenic
Disease Gyrate atrophy of choroid and retina with pyridoxine-responsive ornithinemia Ornithine aminotransferase deficiency
Variation info
Gene OAT
CLNDBN Gyrate atrophy of choroid and retina with pyridoxine-responsive ornithinemia Ornithine aminotransferase deficiency
Reversed 1
HGVS NC_000010.10:g.126090315C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000185.2, RCV000049551.1,


[PMID 23076989] Functional analysis of missense mutations of OAT, causing gyrate atrophy of choroid and retina.