Gene entry
ABCB11
ATP binding cassette subfamily B member 11
- Chromosome
- 2
- Cytoband
- 2q31.1
- Variants (rsID)
- 99
ABCB11 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 2 (region 2q31.1). Its official name is “ATP binding cassette subfamily B member 11”. The reference table lists 99 variants (rsID) for this gene.
Clinically classified variants
27 reference-table entries with clinical significance.
- rs113099601Benignsingle nucleotide variantProgressive familial intrahepatic cholestasis type 2
- rs11568364Benignsingle nucleotide variantProgressive familial intrahepatic cholestasis type 2
- rs11568367Benignsingle nucleotide variantProgressive familial intrahepatic cholestasis type 2
- rs11568373Benignsingle nucleotide variantProgressive familial intrahepatic cholestasis type 2
- rs118109635Benignsingle nucleotide variantProgressive familial intrahepatic cholestasis type 2
- rs145720664Benignsingle nucleotide variantProgressive familial intrahepatic cholestasis type 2
- rs150572999Benignsingle nucleotide variantProgressive familial intrahepatic cholestasis type 2
- rs1521808Benignsingle nucleotide variantProgressive familial intrahepatic cholestasis type 2
- rs2287616Benignsingle nucleotide variantProgressive familial intrahepatic cholestasis type 2
- rs3815675Benignsingle nucleotide variantProgressive familial intrahepatic cholestasis type 2
- rs4148777Benignsingle nucleotide variantProgressive familial intrahepatic cholestasis type 2|Benign recurrent intrahepatic cholestasis type 2
- rs473351Benignsingle nucleotide variantProgressive familial intrahepatic cholestasis type 2
- rs495714Benignsingle nucleotide variantProgressive familial intrahepatic cholestasis type 2
- rs496550Benignsingle nucleotide variantProgressive familial intrahepatic cholestasis type 2
- rs497692Benignsingle nucleotide variantProgressive familial intrahepatic cholestasis type 2|Benign recurrent intrahepatic cholestasis type 2
- rs7563233Benignsingle nucleotide variantProgressive familial intrahepatic cholestasis type 2
- rs11568360Conflicting interpretationssingle nucleotide variantProgressive familial intrahepatic cholestasis type 2
- rs199514789Conflicting interpretationssingle nucleotide variantProgressive familial intrahepatic cholestasis type 2
- rs2287617Conflicting interpretationssingle nucleotide variantProgressive familial intrahepatic cholestasis type 2
- rs372382608Conflicting interpretationssingle nucleotide variantProgressive familial intrahepatic cholestasis type 2
- rs548624200Likely benignsingle nucleotide variantProgressive familial intrahepatic cholestasis type 2
- rs11568372Pathogenicsingle nucleotide variantProgressive familial intrahepatic cholestasis type 2|Benign recurrent intrahepatic cholestasis type 2|Progressive familial intrahepatic cholestasis|Cholestasis, intrahepatic, of pregnancy, 3
- rs147649016Pathogenicsingle nucleotide variant
- rs11568370Uncertain significancesingle nucleotide variantCholestasis, intrahepatic, of pregnancy, 3
- rs199841445Uncertain significancesingle nucleotide variant
- rs200667815Uncertain significancesingle nucleotide variant
- rs3732038Uncertain significancesingle nucleotide variantProgressive familial intrahepatic cholestasis type 2
Other listed variants
- rs485094
- rs486981
- rs502570
- rs508506
- rs518598
- rs552976
- rs566879
- rs569805
- rs579060
- rs853787
- rs853788
- rs862662
- rs2216504
- rs2241339
- rs2241340
- rs3755157
- rs3755160
- rs3755162
- rs3770582
- rs3770586
- rs3770591
- rs3770597
- rs3770602
- rs3770603
- rs3829888
- rs4148768
- rs4148770
- rs4148771
- rs4668115
- rs7576531
- rs7578587
- rs7602171
- rs10196426
- rs11568369
- rs11568379
- rs13404228
- rs13404242
- rs16823014
- rs16856247
- rs17267730
- rs62171008
- rs72884870
- rs72886781
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.
