rs4124874
| Orientation | minus |
| Stabilized | minus |
| Make rs4124874(A;A) |
| Make rs4124874(A;C) |
| Make rs4124874(C;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 233757013 |
| Gene | LOC100286922, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs4124874 |
| dbSNP (classic) | rs4124874 |
| ClinGen | rs4124874 |
| ebi | rs4124874 |
| HLI | rs4124874 |
| Exac | rs4124874 |
| Gnomad | rs4124874 |
| Varsome | rs4124874 |
| LitVar | rs4124874 |
| Map | rs4124874 |
| PheGenI | rs4124874 |
| Biobank | rs4124874 |
| 1000 genomes | rs4124874 |
| hgdp | rs4124874 |
| ensembl | rs4124874 |
| geneview | rs4124874 |
| scholar | rs4124874 |
| rs4124874 | |
| pharmgkb | rs4124874 |
| gwascentral | rs4124874 |
| openSNP | rs4124874 |
| 23andMe | rs4124874 |
| SNPshot | rs4124874 |
| SNPdbe | rs4124874 |
| MSV3d | rs4124874 |
| GWAS Ctlg | rs4124874 |
| GMAF | 0.4968 |
| Max Magnitude | 0 |
| ? | (A;A) (A;C) (C;C) | 28 |
|---|---|---|
|
| ||
The (C;C) genotype is linked to reduced UGT1A1 activity, and increased Bilirubin, except in people of African origin for whom the T allele is a risk factor for breast cancer.
[PMID 17424838] [Genetic polymorphisms of MPO, NQO1, GSTP1, UGT1A6 associated with susceptibility of chronic benzene poisoning].
[PMID 17498780] The influence of metabolic gene polymorphisms on urinary 1-hydroxypyrene concentrations in Chinese coke oven workers.
[PMID 18992148
] Low-penetrance alleles predisposing to sporadic colorectal cancers: a French case-controlled genetic association study.
[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 20389299] Pazopanib-induced hyperbilirubinemia is associated with Gilbert's syndrome UGT1A1 polymorphism.
[PMID 24865931] Combined effects of the UGT1A1 and OATP2 gene polymorphisms as major risk factor for unconjugated hyperbilirubinemia in Indian neonates
| ClinVar | |
|---|---|
| Risk | rs4124874(C;C) |
| Alt | rs4124874(C;C) |
| Reference | rs4124874(A;A) |
| Significance | Other |
| Disease | Gilbert syndrome |
| Variation | info |
| Gene | UGT1A5 UGT1A9 UGT1A3 UGT1A6 UGT1A4 LOC100286922 UGT1A8 UGT1A10 UGT1A7 |
| CLNDBN | Gilbert syndrome, susceptibility to |
| Reversed | 1 |
| HGVS | NC_000002.11:g.234665659T>G |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000013082.3, |
