Variant: rs370483961 

    present in Gene: PEX1
    present in Chromosome: 7
    Position on Chromosome: 92507055
    Alleles of this Variant: C/G;T

rs370483961 in PEX1 gene and HEIMLER SYNDROME 1 PMID 26387595 2015 Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6.

PMID 27302843 2016 Spectrum of PEX1 and PEX6 variants in Heimler syndrome.