rs4148323

rs4148323 is a genetic variant located in the UGT1A gene. dbsnp · gene

In gnomAD, rs4148323 has an overall allele frequency of 1.4%. gnomad · frequency

In ClinVar, rs4148323 is classified as Pathogenic for UGT1A1-related disorder (1 review star, germline; last evaluated 2024-12-19). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs4148323 is classified as Pathogenic for Lucey-Driscoll syndrome (HBLRTFN) (1 review star, germline; last evaluated 2024-12-10). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs4148323 is classified as Pathogenic for Crigler-Najjar syndrome type 1 (1 review star, germline; last evaluated 2024-12-10). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs4148323 is classified as Pathogenic for Crigler-Najjar syndrome, type II (1 review star, germline; last evaluated 2024-12-10). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs4148323 is classified as Pathogenic for Gilbert syndrome (1 review star, germline; last evaluated 2024-12-10). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs4148323 is classified as Likely pathogenic for Crigler-Najjar syndrome, type II (1 review star; last evaluated 2019-05-28). clinvar · classificationclinvar · review confidenceclinvar · assertion date

In ClinVar, rs4148323 is classified as Drug response for Irinotecan response (1 review star, germline; last evaluated 2018-04-04). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs4148323 is classified as Conflicting interpretations for Gilbert syndrome (1 review star, germline; last evaluated 2017-04-27). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs4148323 is classified as Uncertain significance for Bilirubin, serum level of, quantitative trait locus 1 (BILIQTL1) (1 review star, germline). clinvar · classificationclinvar · review confidenceclinvar · origin

In ClinVar, rs4148323 is classified as Uncertain significance for Crigler-Najjar syndrome type 1 (1 review star, germline). clinvar · classificationclinvar · review confidenceclinvar · origin

In ClinVar, rs4148323 is classified as Uncertain significance for Lucey-Driscoll syndrome (HBLRTFN) (1 review star, germline). clinvar · classificationclinvar · review confidenceclinvar · origin

In ClinVar, rs4148323 is classified as Uncertain significance for Crigler-Najjar syndrome, type II (1 review star, germline). clinvar · classificationclinvar · review confidenceclinvar · origin

In ClinVar, rs4148323 is classified as Uncertain significance for Gilbert syndrome (1 review star, germline). clinvar · classificationclinvar · review confidenceclinvar · origin

In ClinVar, rs4148323 is classified as association for Bilirubin, serum level of, quantitative trait locus 1 (BILIQTL1) (0 review stars, germline; last evaluated 2013-01-01). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs4148323 is classified as Conflicting interpretations for not specified (1 review star, germline; last evaluated 2025-03-04). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs4148323 is classified as Conflicting interpretations for not provided (1 review star; last evaluated 2025-01-24). clinvar · classificationclinvar · review confidenceclinvar · assertion date