Variant: rs1554108211 

    present in Gene: PDGFRB
    present in Chromosome: 5
    Position on Chromosome: 150124279
    Alleles of this Variant: A/G

rs1554108211 in PDGFRB gene and Penttinen-Aula syndrome PMID 26279204 2015 A Point Mutation in PDGFRB Causes Autosomal-Dominant Penttinen Syndrome.