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rs121965059

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121965059(C;T)
Make rs121965059(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position124403892
GeneOAT
is asnp
is mentioned by
dbSNPrs121965059
ebirs121965059
HLIrs121965059
Exacrs121965059
Varsomers121965059
Maprs121965059
PheGenIrs121965059
hapmaprs121965059
1000 genomesrs121965059
hgdprs121965059
ensemblrs121965059
gopubmedrs121965059
geneviewrs121965059
scholarrs121965059
googlers121965059
pharmgkbrs121965059
gwascentralrs121965059
openSNPrs121965059
23andMers121965059
23andMe allrs121965059
SNP Nexus

SNPshotrs121965059
SNPdbers121965059
MSV3drs121965059
GWAS Ctlgrs121965059
Max Magnitude0
OMIM613349
Desc
Variant0038
Relatedalso
ClinVar
Risk rs121965059(T;T)
Alt rs121965059(T;T)
Reference rs121965059(C;C)
Significance Pathogenic
Disease Gyrate atrophy of choroid and retina with pyridoxine-responsive ornithinemia
Variation info
Gene OAT
CLNDBN Gyrate atrophy of choroid and retina with pyridoxine-responsive ornithinemia
Reversed 1
HGVS NC_000010.10:g.126092461G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000204.2,