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rs1800456

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs1800456(G;T)
Make rs1800456(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position124397951
GeneOAT
is asnp
is mentioned by
dbSNPrs1800456
ebirs1800456
HLIrs1800456
Exacrs1800456
Varsomers1800456
Maprs1800456
PheGenIrs1800456
hapmaprs1800456
1000 genomesrs1800456
hgdprs1800456
ensemblrs1800456
gopubmedrs1800456
geneviewrs1800456
scholarrs1800456
googlers1800456
pharmgkbrs1800456
gwascentralrs1800456
openSNPrs1800456
23andMers1800456
23andMe allrs1800456
SNP Nexus

SNPshotrs1800456
SNPdbers1800456
MSV3drs1800456
GWAS Ctlgrs1800456
Max Magnitude0
OMIM613349
Desc
Variant0013
Relatedalso
ClinVar
Risk rs1800456(A,C,T;A,C,T)
Alt rs1800456(A,C,T;A,C,T)
Reference rs1800456(G;G)
Significance Probable-Pathogenic
Disease Ornithine aminotransferase deficiency OAT POLYMORPHISM
Variation info
Gene OAT
CLNDBN Ornithine aminotransferase deficiency OAT POLYMORPHISM
Reversed 1
HGVS NC_000010.10:g.126086520C>A; NC_000010.10:g.126086520C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000049525.1, RCV000000181.3,


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