Variant: rs387906788 

    present in Gene: MAP3K1
    present in Chromosome: 5
    Position on Chromosome: 56856683
    Alleles of this Variant: T/A;C;G

rs387906788 in MAP3K1 gene and 46,XY SEX REVERSAL 6 PMID 18947601 2006 Consensus statement on management of intersex disorders.

PMID 21129722 2010 Mutations in MAP3K1 cause 46,XY disorders of sex development and implicate a common signal transduction pathway in human testis determination.

rs387906788 in MAP3K1 gene and Overgrowth PMID 12786760 2003 Mapping a gene for 46,XY gonadal dysgenesis by linkage analysis.

PMID 25383892 2015 Exome sequencing for the diagnosis of 46,XY disorders of sex development.

PMID 24135036 2014 Mutations in MAP3K1 tilt the balance from SOX9/FGF9 to WNT/β-catenin signaling.

PMID 21129722 2010 Mutations in MAP3K1 cause 46,XY disorders of sex development and implicate a common signal transduction pathway in human testis determination.

PMID 22171599 2012 Rapidly screening variants of uncertain significance in the MAP3K1 gene for phenotypic effects.