rs4148323, a SNP also known as 211G>A or G71R, occurs in the UGT1A1 gene, and defines the UGT1A1*6 allele. This allele is associated with Gilbert's syndrome among Asians, Crigler-Najjar syndrome type II (CN-II), and transient familial neonatal hyperbilirubinemia.
[PMID 19343046] rs4148323 and several other nearby SNPs help predict serum total bilirubin levels, based on a study of 750 Japanese.
[PMID 19238116] Common variants of four bilirubin metabolism genes and their association with serum bilirubin and coronary artery disease in Chinese Han population
[PMID 20639394] Genome-wide association of serum bilirubin levels in Korean population
[PMID 22514612] Genetic Variations and Haplotype Diversity of the UGT1 Gene Cluster in the Chinese Population
|Disease||Gilbert's syndrome, Hyperbilirubinemia transient familial neonatal, Bilirubin|
|ClinVar||info, info, info, info, info, info, info, info, info|
|Gene||UGT1A5, UGT1A9, UGT1A3, UGT1A6, UGT1A4, UGT1A1, UGT1A8, UGT1A10, UGT1A7|
|CLNDBN||Gilbert's syndrome, Hyperbilirubinemia transient familial neonatal, Bilirubin, serum level of, quantitative trait locus 1|
|CLNSRC||OMIM Allelic Variant|
|CLNACC||RCV000013071.23, RCV000022810.23, RCV000022811.1|
[PMID 17424838] [Genetic polymorphisms of MPO, NQO1, GSTP1, UGT1A6 associated with susceptibility of chronic benzene poisoning].
[PMID 18547414] Genotyping panel for assessing response to cancer chemotherapy.
[PMID 19267064] [Relationship between genetic polymorphisms of phase I and phase II metabolizing enzymes and DNA damage of workers exposed to vinyl chloride monomer].
[PMID 19482841] Serum bilirubin levels on ICU admission are associated with ARDS development and mortality in sepsis.
[PMID 19572200] Prediction of deleterious non-synonymous single-nucleotide polymorphisms of human uridine diphosphate glucuronosyltransferase genes.
[PMID 20389299] Pazopanib-induced hyperbilirubinemia is associated with Gilbert's syndrome UGT1A1 polymorphism.
[PMID 23371916] A Genome-Wide Association Study for Serum Bilirubin Levels and Gene-Environment Interaction in a Chinese Population