Variant: rs760114690 

    present in Gene: LRP2
    present in Chromosome: 2
    Position on Chromosome: 169318886
    Alleles of this Variant: T/C

rs760114690 in LRP2 gene and Donnai-Barrow syndrome PMID 12923867 2003 Donnai-Barrow syndrome: four additional patients.

PMID 17632512 2007 Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes.