{{Rsnum
|rsid=2287622
|Gene=ABCB11
|Chromosome=2
|position=168973818
|Orientation=minus
|ReferenceAllele=T
|MissenseAllele=G
|GMAF=0.4059
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=ABCB11
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 42.9 | 42.0 | 15.2
| HCB | 52.2 | 37.5 | 10.3
| JPT | 61.3 | 33.3 | 5.4
| YRI | 28.8 | 54.8 | 16.4
| ASW | 35.7 | 39.3 | 25.0
| CHB | 52.2 | 37.5 | 10.3
| CHD | 52.8 | 34.3 | 13.0
| GIH | 31.0 | 54.0 | 15.0
| LWK | 28.2 | 46.4 | 25.5
| MEX | 15.8 | 52.6 | 31.6
| MKK | 31.4 | 42.9 | 25.6
| TSI | 41.6 | 45.5 | 12.9
| HapMapRevision=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}}

{{Venter SNP
|rsid=2287622
|allele=G
|frequency=0.408
|uid=1103658283866
|type=heterozygous_SNP
|hugo=ABCB11
|ensembl gene=ENSG00000073734
|ensembl transcript=ENST00000263817
|sift=TOLERATED
|disease=Defects in ABCB11 are the cause of progressive familial intrahepatic cholestasis 2 (PFIC2) (MIM:601847). PFIC2 is an inherited liver disease of childhood which is characterized by cholestasis and normal serum gamma-glutamyltransferase activity. Defects in ABCB11 are also found in cases of chronic intrahepatic cholestasis without obvious familial history of chronic liver disease.
}}

{{PMID Auto
|PMID=18176959
|Title=Increased susceptibility for intrahepatic cholestasis of pregnancy and contraceptive-induced cholestasis in carriers of the 1331T>C polymorphism in the bile salt export pump.
|OA=1
}}

{{GET Evidence
|gene=ABCB11
|aa_change=Val444Ala
|aa_change_short=V444A
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs2287622
|overall_frequency_n=5840
|overall_frequency_d=9686
|overall_frequency=0.602932
|n_genomes=45
|n_genomes_annotated=0
|n_haplomes=67
|n_articles=0
|n_articles_annotated=0
|qualityscore_in_silico=1
|qualitycomment_in_silico=Y
|gene_in_genetests=Y
|pph2_score=0.002
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=2
|autoscore=3
|n_web_uneval=10
}}

{{PMID Auto
|PMID=22522591
|Title=Genetic variations in bile acid homeostasis are not overrepresented in alcoholic cirrhosis compared to patients with heavy alcohol abuse and absent liver disease.
}}

{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}