Variant: rs137852988 

    present in Gene: ABCG8
    present in Chromosome: 2
    Position on Chromosome: 43875377
    Alleles of this Variant: G/A

rs137852988 in ABCG8 gene and Sitosterolemia PMID 15054092 2004 Missense mutations in ABCG5 and ABCG8 disrupt heterodimerization and trafficking.

PMID 11452359 2001 Two genes that map to the STSL locus cause sitosterolemia: genomic structure and spectrum of mutations involving sterolin-1 and sterolin-2, encoded by ABCG5 and ABCG8, respectively.

PMID 11099417 2000 Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters.