Variant: rs75469429 

    present in Gene: GJC2
    present in Chromosome: 1
    Position on Chromosome: 228157866
    Alleles of this Variant: C/A;G;T

rs75469429 in GJC2 gene and SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE (disorder) PMID 19056803 2009 Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations.