rs28399499, CYP2B6

N. diseases: 6
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Schwartz-Jampel Syndrome
CUI: C0036391
Disease: Schwartz-Jampel Syndrome
0.020 GeneticVariation BEFREE Our data show an association between the c.983T>C polymorphism and nevirapine-induced SJS/TEN. 25147095 2014
Toxic Epidermal Necrolysis
CUI: C0014518
Disease: Toxic Epidermal Necrolysis
0.020 GeneticVariation BEFREE Our data show an association between the c.983T>C polymorphism and nevirapine-induced SJS/TEN. 25147095 2014
Schwartz-Jampel Syndrome
CUI: C0036391
Disease: Schwartz-Jampel Syndrome
0.020 GeneticVariation BEFREE CYP2B6 G516T and T983C single nucleotide polymorphisms (SNPs) were found to be associated with SJS/TEN susceptibility. 23774940 2013
Toxic Epidermal Necrolysis
CUI: C0014518
Disease: Toxic Epidermal Necrolysis
0.020 GeneticVariation BEFREE CYP2B6 G516T and T983C single nucleotide polymorphisms (SNPs) were found to be associated with SJS/TEN susceptibility. 23774940 2013
Immunologic Deficiency Syndromes
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
0.010 GeneticVariation BEFREE We characterized the HIV-1-infected children (n = 60) for the CYP2B6 c.516G>T, c.785A>G, c.983T>C, and c.1459C>T single nucleotide polymorphisms (SNPs). 28816644 2017
HIV disease progression
CUI: C1141957
Disease: HIV disease progression
0.010 GeneticVariation BEFREE We conclude that CYP2B6 c.516G>T and CYP2B6 c.983T>C could be important sources of nevirapine pharmacokinetic variability that could be considered for dosage optimization, while CYP1A2 g.-163C>A seems to be associated with HIV disease progression. 26348712 2015
Human immunodeficiency virus (HIV) II infection category B1
0.010 GeneticVariation BEFREE In a North American, treated, adherent human immunodeficiency virus (HIV)-positive cohort (self-identified whites, n = 175; blacks, n = 218), we investigated whether CYP2B6 (516G>T, 983T>C), UGT2B7 (IVS1+985A>G, 802C>T), MDR1 3435C>T, chemokine (C-C motif) receptor 2 (CCR2) 190G>A, and CCR5 (-2459G>A, Δ32) polymorphisms influenced the time to achieve virologic success (TVLS). 21673041 2011
hiv-infection/aids
CUI: C0497169
Disease: hiv-infection/aids
0.010 GeneticVariation BEFREE To determine the prevalence of the novel CYP2B6 functional polymorphism 983T>C in Papua New Guinea where HIV/AIDS poses a significant health problem. 17391322 2007