OTC, ornithine carbamoyltransferase, 5009

N. diseases: 135; N. variants: 142
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs5963409
rs5963409
Entrez Id: 5009
Gene Symbol: OTC
OTC
CUI: C0002395
Disease:
Alzheimer's Disease
0.010 GeneticVariation BEFREE The rs5963409 minor allele was weakly but significantly associated with an increased risk of developing AD (OR=1.19, p=0.004). 18983895 2009
dbSNP: rs5963411
rs5963411
Entrez Id: 5009
Gene Symbol: OTC
OTC
CUI: C0002395
Disease:
Alzheimer's Disease
0.010 GeneticVariation BEFREE Association studies in a population from northern France have revealed that two SNPs -389 G/A (rs5963409) and -241 A/G (rs5963411) located in the promoter of the OTC gene are associated with the risk of developing AD. 18983895 2009