rs2287622
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 2.8x higher risk for intrahepatic cholestasis of pregnancy | |
| (C;T) | 1.7x higher risk for intrahepatic cholestasis of pregnancy | |
| (T;T) | 0 | normal |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 168973818 |
| Gene | ABCB11 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2287622 |
| dbSNP (classic) | rs2287622 |
| ClinGen | rs2287622 |
| ebi | rs2287622 |
| HLI | rs2287622 |
| Exac | rs2287622 |
| Gnomad | rs2287622 |
| Varsome | rs2287622 |
| LitVar | rs2287622 |
| Map | rs2287622 |
| PheGenI | rs2287622 |
| Biobank | rs2287622 |
| 1000 genomes | rs2287622 |
| hgdp | rs2287622 |
| ensembl | rs2287622 |
| geneview | rs2287622 |
| scholar | rs2287622 |
| rs2287622 | |
| pharmgkb | rs2287622 |
| gwascentral | rs2287622 |
| openSNP | rs2287622 |
| 23andMe | rs2287622 |
| SNPshot | rs2287622 |
| SNPdbe | rs2287622 |
| MSV3d | rs2287622 |
| GWAS Ctlg | rs2287622 |
| GMAF | 0.4059 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
rs2287622 is a SNP in the ATP-binding cassette, sub-family B (MDR/TAP), member 11 ABCB11 gene. The more common (T) allele encodes a Val, while the rarer (C) allele encodes a Ala; this SNP is also known as V444A or c.1331T>C.
In two intrahepatic cholestasis of pregnancy (ICP) cohorts (333 UK, 158 continental Europe), rs2287622 was associated with ICP (allelic odds ratio for C vs T 1.7 (CI: 1.4-2.1, p<0.0001). In addition, (C;C) homozygotes were more likely to have ICP than (T;T) homozygotes with and odds ratio of 2.8, (CI 1.7-4.4, p<0.0001). [PMID 18987030]
[PMID 18176959
] Increased susceptibility for intrahepatic cholestasis of pregnancy and contraceptive-induced cholestasis in carriers of the 1331T>C polymorphism in the bile salt export pump.
[PMID 22522591] Genetic variations in bile acid homeostasis are not overrepresented in alcoholic cirrhosis compared to patients with heavy alcohol abuse and absent liver disease.
[PMID 25713208] No Contribution of the ABCB11 p.444A Polymorphism in Japanese Patients with Drug-induced Cholestasis
| ClinVar | |
|---|---|
| Risk | rs2287622(A;A) Rs2287622(C;C) rs2287622(G;G) |
| Alt | rs2287622(A;A) Rs2287622(C;C) rs2287622(G;G) |
| Reference | Rs2287622(T;T) |
| Significance | Non-pathogenic |
| Disease | not specified Familial Intrahepatic Cholestasis |
| Variation | info |
| Gene | ABCB11 |
| CLNDBN | not specified Familial Intrahepatic Cholestasis |
| Reversed | 1 |
| HGVS | NC_000002.11:g.169830328A>G |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000174528.3, RCV000273829.1, |
[PMID 28292275] A preliminary investigation on single nucleotide polymorphism rs2287622 of bile salt export pump gene in patients with chronic hepatitis C virus infection in Hunan, China.
[PMID 29755014] Diagnosis of cirrhosis in patients with chronic hepatitis C genotype 4: Role of ABCB11 genotype polymorphism and plasma bile acid levels.
[PMID 30614300] Association between bile salt export pump polymorphisms and intrahepatic cholestasis of pregnancy susceptibility: a meta-analysis of case-control studies.
