Variant: rs28931608 

    present in Gene: POR
    present in Chromosome: 7
    Position on Chromosome: 75985179
    Alleles of this Variant: G/A;C

rs28931608 in POR gene and Antley-Bixler Syndrome with Disordered Steroidogenesis PMID 14758361 2004 Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome.

PMID 20124576 2010 Ambiguous genitalia, impaired steroidogenesis, and Antley-Bixler syndrome in a patient with P450 oxidoreductase deficiency.

PMID 15483095 2005 Cytochrome P450 oxidoreductase gene mutations and Antley-Bixler syndrome with abnormal genitalia and/or impaired steroidogenesis: molecular and clinical studies in 10 patients.

PMID 20940534 2010 Effects of genetic variants of human P450 oxidoreductase on catalysis by CYP2D6 in vitro.

PMID 28841001 2017 A Case of Antley-Bixler Syndrome With a Novel Likely Pathogenic Variant (c.529G>C) in the POR Gene.