rs2287622

A SNP in the ABCB11 gene on chromosome 2. Its most notable genotype is G;G: 2.8x higher risk for intrahepatic cholestasis of pregnancy

Gene
ABCB11
Location
Chr 2168,973,818 (GRCh38)
Highest magnitude
0.0Typical
Tested on
23andMe, FamilyTreeDNA
Minor allele frequency
41%

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. G;GMost notableBad2.8x higher risk for intrahepatic cholestasis of pregnancyTypical · 0.038% of people
  2. A;GBad1.7x higher risk for intrahepatic cholestasis of pregnancyTypical · 0.044% of people
  3. A;AGoodnormalTypical · 0.018% of people

SNPedia records rs2287622 on the minus strand: (C;C), (C;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Frequency

Share of each genotype in 11 HapMap populations.

  • AverageG;G 38% A;G 44% A;A 18%
  • European ancestry (Utah)G;G 43% A;G 42% A;A 15%
  • Han Chinese (Beijing)G;G 52% A;G 38% A;A 10%
  • Japanese (Tokyo)G;G 61% A;G 33% A;A 5%
  • Yoruba (Nigeria)G;G 29% A;G 55% A;A 16%
  • African ancestry (Southwest US)G;G 36% A;G 39% A;A 25%
  • Chinese (Denver)G;G 53% A;G 34% A;A 13%
  • Gujarati IndianG;G 31% A;G 54% A;A 15%
  • Luhya (Kenya)G;G 28% A;G 46% A;A 26%
  • Mexican ancestry (Los Angeles)G;G 16% A;G 53% A;A 32%
  • Maasai (Kenya)G;G 31% A;G 43% A;A 26%
  • TuscanG;G 42% A;G 46% A;A 13%

Conditions, medicines and genes

Other ABCB11 SNPs

All ABCB11 SNPs

Notes

From SNPedia

Notes

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).

A;A

Less likely to have intrahepatic cholestasis of pregnancy.

Source and license

Adapted from rs2287622 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.

SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.