rs8175347
| Merged into | rs3064744 |
| Orientation | plus |
| Stabilized | plus |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 233760235 |
| Gene | UGT1A1, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9, UGT1A10 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs8175347 |
| dbSNP (classic) | rs8175347 |
| ClinGen | rs8175347 |
| ebi | rs8175347 |
| HLI | rs8175347 |
| Exac | rs8175347 |
| Gnomad | rs8175347 |
| Varsome | rs8175347 |
| LitVar | rs8175347 |
| Map | rs8175347 |
| PheGenI | rs8175347 |
| Biobank | rs8175347 |
| 1000 genomes | rs8175347 |
| hgdp | rs8175347 |
| ensembl | rs8175347 |
| geneview | rs8175347 |
| scholar | rs8175347 |
| rs8175347 | |
| pharmgkb | rs8175347 |
| gwascentral | rs8175347 |
| openSNP | rs8175347 |
| 23andMe | rs8175347 |
| SNPshot | rs8175347 |
| SNPdbe | rs8175347 |
| MSV3d | rs8175347 |
| GWAS Ctlg | rs8175347 |
| Status | Merged into rs3064744 |
| Max Magnitude | 0 |
The rs8175347 SNP consists of variation of a short (TA)(n) repeat sequence covering the TATA box of the UGT1A1 UDP-glucuronosyltransferase1A1 gene. This SNP is associated with hyperbilirubinaemia (Gilbert's syndrome) and adverse drug reactions, and is used for dosage advice for irinotecan. The low-activity (risk) alleles are rs8175347(TA)7 and (TA)8.
[PMID 21309756] Prevalence of clinically relevant UGT1A alleles and haplotypes in African populations
[PMID 22050734] UGT1A1*28 variant allele is a predictor of severe hyperbilirubinemia in HIV-infected patients on HAART in southern Brazil[PMID 18349273] UGT1A1 genetic polymorphisms, endogenous estrogen exposure, soy food intake, and endometrial cancer risk.
[PMID 19414484
] Genome-wide association meta-analysis for total serum bilirubin levels.
[PMID 19482841] Serum bilirubin levels on ICU admission are associated with ARDS development and mortality in sepsis.
[PMID 20389299] Pazopanib-induced hyperbilirubinemia is associated with Gilbert's syndrome UGT1A1 polymorphism.
[PMID 22580719] UGT1A1, SLCO1B1, and SLCO1B3 polymorphisms versus neonatal hyperbilirubinemia: is there an association?
[PMID 22633539] Selected polymorphisms in sex hormone-related genes, circulating sex hormones and risk of endometrial cancer.
[PMID 25086287] Genetic variation underlying common hereditary hyperbilirubinaemia (Gilbert's syndrome) and respiratory health in the 1946 British birth cohort
[PMID 24865931] Combined effects of the UGT1A1 and OATP2 gene polymorphisms as major risk factor for unconjugated hyperbilirubinemia in Indian neonates
[PMID 26413716] A GWAS Study on Liver Function Test Using eMERGE Network Participants
