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rs121965044

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121965044(C;T)
Make rs121965044(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position124398012
GeneOAT
is asnp
is mentioned by
dbSNPrs121965044
ebirs121965044
HLIrs121965044
Exacrs121965044
Varsomers121965044
Maprs121965044
PheGenIrs121965044
hapmaprs121965044
1000 genomesrs121965044
hgdprs121965044
ensemblrs121965044
gopubmedrs121965044
geneviewrs121965044
scholarrs121965044
googlers121965044
pharmgkbrs121965044
gwascentralrs121965044
openSNPrs121965044
23andMers121965044
23andMe allrs121965044
SNP Nexus

SNPshotrs121965044
SNPdbers121965044
MSV3drs121965044
GWAS Ctlgrs121965044
Max Magnitude0
OMIM613349
Desc
Variant0012
Relatedalso
ClinVar
Risk rs121965044(T;T)
Alt rs121965044(T;T)
Reference rs121965044(C;C)
Significance Other
Disease Ornithine aminotransferase deficiency
Variation info
Gene OAT
CLNDBN Ornithine aminotransferase deficiency
Reversed 1
HGVS NC_000010.10:g.126086581G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000180.5,


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