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rs386833604

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs386833604(A;G)
Make rs386833604(G;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position124408854
GeneOAT
is asnp
is mentioned by
dbSNPrs386833604
ebirs386833604
HLIrs386833604
Exacrs386833604
Varsomers386833604
Maprs386833604
PheGenIrs386833604
hapmaprs386833604
1000 genomesrs386833604
hgdprs386833604
ensemblrs386833604
gopubmedrs386833604
geneviewrs386833604
scholarrs386833604
googlers386833604
pharmgkbrs386833604
gwascentralrs386833604
openSNPrs386833604
23andMers386833604
23andMe allrs386833604
SNP Nexus

SNPshotrs386833604
SNPdbers386833604
MSV3drs386833604
GWAS Ctlgrs386833604
Max Magnitude0
ClinVar
Risk rs386833604(G;G)
Alt rs386833604(G;G)
Reference rs386833604(A;A)
Significance Probable-Pathogenic
Disease Ornithine aminotransferase deficiency
Variation info
Gene OAT
CLNDBN Ornithine aminotransferase deficiency
Reversed 1
HGVS NC_000010.10:g.126097423T>C
CLNSRC ClinVar
CLNACC RCV000049531.1,


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