rs3740066
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 4.4x risk for ICP | |
| (A;G) | 1.6x risk for ICP | |
| (C;C) | 0 | |
| (G;G) | 0 | average |
| Reference | GRCh38 38.1/142 |
| Chromosome | 10 |
| Position | 99844450 |
| Gene | ABCC2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs3740066 |
| dbSNP (classic) | rs3740066 |
| ClinGen | rs3740066 |
| ebi | rs3740066 |
| HLI | rs3740066 |
| Exac | rs3740066 |
| Gnomad | rs3740066 |
| Varsome | rs3740066 |
| LitVar | rs3740066 |
| Map | rs3740066 |
| PheGenI | rs3740066 |
| Biobank | rs3740066 |
| 1000 genomes | rs3740066 |
| hgdp | rs3740066 |
| ensembl | rs3740066 |
| geneview | rs3740066 |
| scholar | rs3740066 |
| rs3740066 | |
| pharmgkb | rs3740066 |
| gwascentral | rs3740066 |
| openSNP | rs3740066 |
| 23andMe | rs3740066 |
| SNPshot | rs3740066 |
| SNPdbe | rs3740066 |
| MSV3d | rs3740066 |
| GWAS Ctlg | rs3740066 |
| GMAF | 0.3044 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
rs3740066, a SNP in the ABCC2 gene, is reported to be associated with a higher risk of developing intrahepatic cholestasis of pregnancy (ICP) based on a study of ~70 Argentinian patients. ICP is associated with increased fetal risks such as premature birth or intrauterine death.
The risk allele is rs3740066(A), and the odds ratio for homozygous rs3740066(A;A) mothers is 4.44 (CI: 1.83 - 10.78), and for heterozygous mothers 1.65 (CI: 0.76 - 3.64), compared to rs3740066(G;G) mothers. [PMID 17997497]
[PMID 22630058
] ABCC2 Polymorphisms and Haplotype are Associated with Drug Resistance in Chinese Epileptic Patients
[PMID 18395921] Role of ABCC2 common variants in intrahepatic cholestasis of pregnancy.
[PMID 18926681] Polymorphisms of MRP2 (ABCC2) are associated with susceptibility to nonalcoholic fatty liver disease.
[PMID 19568750] MRP2 and GSTP1 polymorphisms and chemotherapy response in advanced non-small cell lung cancer.
[PMID 23506516] A systematic review and meta-analysis of the role of ABCC2 variants on drug response in patients with epilepsy
[PMID 23556446] Association of ATP-binding cassette transporter variants with the risk of Alzheimer's disease
[PMID 22868256] A prospective validation pharmacogenomic study in the adjuvant setting of colorectal cancer patients treated with the 5-fluorouracil/leucovorin/oxaliplatin (FOLFOX4) regimen.
| ClinVar | |
|---|---|
| Risk | Rs3740066(A;A) Rs3740066(C;C) |
| Alt | Rs3740066(A;A) Rs3740066(C;C) |
| Reference | Rs3740066(G;G) |
| Significance | Non-pathogenic |
| Disease | not specified Dubin-Johnson syndrome |
| Variation | info |
| Gene | ABCC2 |
| CLNDBN | not specified Dubin-Johnson syndrome |
| Reversed | 1 |
| HGVS | NC_000010.10:g.101604207C>T |
| CLNSRC | |
| CLNACC | RCV000176843.2, RCV000396735.1, |
[PMID 32295184] MTHFR and VDR Polymorphisms Improve the Prognostic Value of MYCN Status on Overall Survival in Neuroblastoma Patients.
