rs1404008939, ABCB1

N. diseases: 4
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.010 GeneticVariation BEFREE However, only ABCC2 3972C>T (rs3740066) was significantly associated with AD risk after logistic regression analysis including all variants. 23556446 2013
Seizures
CUI: C0036572
Disease: Seizures
0.010 GeneticVariation BEFREE Further, low protein-expressing CGT and TGT (c.-24C>T, c.1249G>A, c.3972C>T) haplotypes were always observed to be present in combination with the AG (c.-1549G>A, c.-1019A>G) haplotype that was over-represented in women with 'no seizures'. 22565165 2012
Mental Retardation
CUI: C0025362
Disease: Mental Retardation
0.010 GeneticVariation BEFREE On the other hand, the delGCGC haplotype at G-1774delG, C-24T, G1249A and C3972T was over represented among the epileptic patients with a complication of mental retardation in comparison with those without (32.4% vs 22.0%; P=0.009); and the G-1774delG allele was also associated with mental retardation (P=0.03). 18416940 2008
Intellectual Disability
CUI: C3714756
Disease: Intellectual Disability
0.010 GeneticVariation BEFREE On the other hand, the delGCGC haplotype at G-1774delG, C-24T, G1249A and C3972T was over represented among the epileptic patients with a complication of mental retardation in comparison with those without (32.4% vs 22.0%; P=0.009); and the G-1774delG allele was also associated with mental retardation (P=0.03). 18416940 2008