- 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).