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rs386833620

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833620(-;-)
Make rs386833620(-;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position124401788
GeneOAT
is asnp
is mentioned by
dbSNPrs386833620
ebirs386833620
HLIrs386833620
Exacrs386833620
Varsomers386833620
Maprs386833620
PheGenIrs386833620
hapmaprs386833620
1000 genomesrs386833620
hgdprs386833620
ensemblrs386833620
gopubmedrs386833620
geneviewrs386833620
scholarrs386833620
googlers386833620
pharmgkbrs386833620
gwascentralrs386833620
openSNPrs386833620
23andMers386833620
23andMe allrs386833620
SNP Nexus

SNPshotrs386833620
SNPdbers386833620
MSV3drs386833620
GWAS Ctlgrs386833620
Max Magnitude0
ClinVar
Risk rs386833620(;)
Alt rs386833620(;)
Reference rs386833620(G;G)
Significance Probable-Pathogenic
Disease Ornithine aminotransferase deficiency
Variation info
Gene OAT
CLNDBN Ornithine aminotransferase deficiency
Reversed 1
HGVS NC_000010.10:g.126090357delC
CLNSRC ClinVar
CLNACC RCV000049548.1,


[PMID 1737786] Ornithine delta-aminotransferase mutations in gyrate atrophy. Allelic heterogeneity and functional consequences.