Rs4148323
| Orientation | plus |
| is a | snp |
| is | mentioned by |
| dbSNP | rs4148323 |
| PheGenI | rs4148323 |
| nextbio | rs4148323 |
| hapmap | rs4148323 |
| 1000 genomes | rs4148323 |
| hgdp | rs4148323 |
| ensembl | rs4148323 |
| gopubmed | rs4148323 |
| geneview | rs4148323 |
| scholar | rs4148323 |
| rs4148323 | |
| pharmgkb | rs4148323 |
| gwascentral | rs4148323 |
| openSNP | rs4148323 |
| 23andMe | rs4148323 |
| 23andMe all | rs4148323 |
| SNP Nexus | |
| SNPshot | rs4148323 |
| SNPdbe | rs4148323 |
| MSV3d | rs4148323 |
| Gene | UGT1A1, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9, UGT1A10 |
| Chromosome | 2 |
| Orientation | plus |
| Position | 234669144 |
| Reference | GRCh37.p2 37.2/134 |
| Max Magnitude | 0 |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | homozygous for UGT1A1*6 | |
| (A;G) | carrier of 1 UGT1A1*6 allele | |
| (G;G) | 0 | normal |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
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.
[PMID 19243019] rs4148323(A) in exon 1 of the UGT1A1 gene is associated with 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
| ClinVar | |
|---|---|
| Risk | rs4148323(A;A) |
| Normal | rs4148323(G;G) |
| Significance | 255 |
| Disease | Gilbert's syndrome, Lucey-Driscoll syndrome, 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, Lucey-Driscoll syndrome, Bilirubin, serum level of, quantitative trait locus 1 |
| Reversed | 0 |
| CLNHGVS | NC_000002.11:g.234669144G>A |
| CLNSRC | OMIM Allelic Variant |
[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
