Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1045642
rs1045642
CUI: C1533172
Disease: Infantile nystagmus syndrome
Infantile nystagmus syndrome
0.030 GeneticVariation BEFREE The current study was conducted to evaluate the influence of two single nucleotide polymorphisms (SNPs) in ABCB1 (C3435T and C1236T) on the steroid treatment response in INS children. 27719329

2017

dbSNP: rs1045642
rs1045642
CUI: C1533172
Disease: Infantile nystagmus syndrome
Infantile nystagmus syndrome
0.030 GeneticVariation BEFREE MDR1 rs1128503, rs1045642, and rs2032582 polymorphisms are not associated with INS susceptibility; however, there is evidence of an association between rs1128503 and increased risk of steroid resistance in children with INS, which indicates MDR1 may play a role in steroid resistance found in children with INS. 28614261

2017

dbSNP: rs1045642
rs1045642
CUI: C1533172
Disease: Infantile nystagmus syndrome
Infantile nystagmus syndrome
0.030 GeneticVariation BEFREE The role of the multidrug resistance-1 (MDR1 or ABCB1) gene polymorphisms 1236T>C, 2677T>G, and 3435T>C was studied in relation to susceptibility, demographics, and pathological characteristics, as well as their role in the therapeutic response (TR) to prednisone treatment in children with idiopathic nephrotic syndrome (INS). 25559283

2015