Variant: rs137854499 

    present in Gene: ABCA1
    present in Chromosome: 9
    Position on Chromosome: 104788469
    Alleles of this Variant: A/G

rs137854499 in ABCA1 gene and Hypoalphalipoproteinemia, Familial PMID 15722566 2005 Denaturing high-performance liquid chromatography in the detection of ABCA1 gene mutations in familial HDL deficiency.

PMID 22962670 2012 Evaluation and treatment of hypertriglyceridemia: an Endocrine Society clinical practice guideline.

PMID 12204794 2002 ABCA1(Alabama): a novel variant associated with HDL deficiency and premature coronary artery disease.

PMID 11086027 2000 Age and residual cholesterol efflux affect HDL cholesterol levels and coronary artery disease in ABCA1 heterozygotes.

PMID 10533863 1999 Mutations in the ABC1 gene in familial HDL deficiency with defective cholesterol efflux.

PMID 10431236 1999 Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency.

PMID 12009425 2002 Novel ABCA1 compound variant associated with HDL cholesterol deficiency.

PMID 24097981 2013 Differential phospholipid substrates and directional transport by ATP-binding cassette proteins ABCA1, ABCA7, and ABCA4 and disease-causing mutants.