Variant: rs483353013 

    present in Gene: LRP1
    present in Chromosome: 12
    Position on Chromosome: 57175646
    Alleles of this Variant: A/C;G

rs483353013 in LRP1 gene and Burnett Schwartz Berberian syndrome PMID 26142438 2015 Whole exome sequencing identifies LRP1 as a pathogenic gene in autosomal recessive keratosis pilaris atrophicans.