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Something seems wrong between dbSNP and the results from 23andMe and FTDNA. See Talk:Rs4148323 for more information.

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.

[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




[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


[PMID 26413716] A GWAS Study on Liver Function Test Using eMERGE Network Participants

rs4148323

Parent Gene: UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9
Importance: 5
Minor Allele: A = 3%
Major Allele: G = 97%
My Genotype: Log In
Risk Allele:

Disease/Trait: Bilirubin Measurement

rs4148323 is associated with Bilirubin Measurement(R). It is reported to have a 0.14 bilirubin level increase on Bilirubin levels Conditional on rs11891311. No specific risk allele was identified in the study.

Reported risk allele frequency: 18.90%
Reported genes: UGT1A1 , UGT1A10 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9
Beta coefficient: 0.14 bilirubin level increase
Risk Allele: None (P=3.00*10-139)
Context: missense_variant
Study title: Genome-wide association of serum bilirubin levels in Korean population. (R)
Initial sample size: 8,841 Korean ancestry individuals
Replication sample size: 1,096 Korean ancestry individuals
Journal: Hum Mol Genet (R)
Year published: July 16, 2010
Strength of evidence: Strong

Disease/Trait: Bilirubin Measurement

rs4148323 is associated with Bilirubin Measurement(R). It is reported to have a 0.121 unit increase on Bilirubin levels (Indirect bilirubin). No specific risk allele was identified in the study.

Reported risk allele frequency: 20.00%
Reported genes: UGT1A1 , UGT1A10 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9
Beta coefficient: 0.121 unit increase
Risk Allele: None (P=2.00*10-62)
Context: missense_variant
Study title: A genome-wide association study for serum bilirubin levels and gene-environment interaction in a Chinese population. (R)
Initial sample size: 1,452 Han Chinese ancestry individuals
Replication sample size: 8,830 Han Chinese ancestry individuals
Journal: Genet Epidemiol (R)
Year published: Jan. 31, 2013
Strength of evidence: Strong

Disease/Trait: Bilirubin Measurement

rs4148323 is associated with Bilirubin Measurement(R). It is reported to have a 0.09 unit increase on Bilirubin levels (Direct bilirubin). No specific risk allele was identified in the study.

Reported risk allele frequency: 20.00%
Reported genes: UGT1A1 , UGT1A10 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9
Beta coefficient: 0.09 unit increase
Risk Allele: None (P=7.00*10-30)
Context: missense_variant
Study title: A genome-wide association study for serum bilirubin levels and gene-environment interaction in a Chinese population. (R)
Initial sample size: 1,452 Han Chinese ancestry individuals
Replication sample size: 8,830 Han Chinese ancestry individuals
Journal: Genet Epidemiol (R)
Year published: Jan. 31, 2013
Strength of evidence: Strong

Disease/Trait: Bilirubin Measurement

rs4148323 is associated with Bilirubin Measurement(R). It is reported to have a 0.109 unit increase on Bilirubin levels (Total bilirubin). No specific risk allele was identified in the study.

Reported risk allele frequency: 20.00%
Reported genes: UGT1A1 , UGT1A10 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9
Beta coefficient: 0.109 unit increase
Risk Allele: None (P=5.00*10-69)
Context: missense_variant
Study title: A genome-wide association study for serum bilirubin levels and gene-environment interaction in a Chinese population. (R)
Initial sample size: 1,452 Han Chinese ancestry individuals
Replication sample size: 8,830 Han Chinese ancestry individuals
Journal: Genet Epidemiol (R)
Year published: Jan. 31, 2013
Strength of evidence: Strong