Mechanism:

  • This SNP is also known as V444A or c.1331T>C.
  • ABCB11 is a bile salt export pump protein (R). Mutations in the protein can cause impaired bile removal from the liver.

The C (minor) allele is associated with:

  • Increased risk of developing Cholestasis, a liver disorder causing bile to block up in the liver (R). This is especially true during pregnancy (R).  This cholestasis could potentially be used as an early marker for Hodgkin’s lymphoma (R).

 

rs2287622

Parent Gene: ABCB11

Importance: 2
Less common allele: A = 41%
More common allele: G = 59%
My Genotype: Log In
Risk Allele: A

Disease/Trait: Total Cholesterol Measurement

The A allele of rs2287622 is reported to be associated with Total Cholesterol Measurement (R) . Your genotype was not identified for this SNP so we are unable to comment on your association with Total cholesterol levels (Trans-ethnic initial).