Have questions? Visit https://www.reddit.com/r/SNPedia

rs386833597

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833597(A;A)
Make rs386833597(A;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position124398081
GeneOAT
is asnp
is mentioned by
dbSNPrs386833597
ebirs386833597
HLIrs386833597
Exacrs386833597
Varsomers386833597
Maprs386833597
PheGenIrs386833597
hapmaprs386833597
1000 genomesrs386833597
hgdprs386833597
ensemblrs386833597
gopubmedrs386833597
geneviewrs386833597
scholarrs386833597
googlers386833597
pharmgkbrs386833597
gwascentralrs386833597
openSNPrs386833597
23andMers386833597
23andMe allrs386833597
SNP Nexus

SNPshotrs386833597
SNPdbers386833597
MSV3drs386833597
GWAS Ctlgrs386833597
Max Magnitude0
ClinVar
Risk rs386833597(A;A)
Alt rs386833597(A;A)
Reference rs386833597(G;G)
Significance Probable-Pathogenic
Disease Ornithine aminotransferase deficiency
Variation info
Gene OAT
CLNDBN Ornithine aminotransferase deficiency
Reversed 1
HGVS NC_000010.10:g.126086650C>T
CLNSRC ClinVar
CLNACC RCV000049523.1,


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