Variant: rs1057517193 

    present in Gene: BBS12
    present in Chromosome: 4
    Position on Chromosome: 122742972
    Alleles of this Variant: G/-

rs1057517193 in BBS12 gene and BARDET-BIEDL SYNDROME 12 PMID 24611592 2014 Overview of Bardet-Biedl syndrome in Spain: identification of novel mutations in BBS1, BBS10 and BBS12 genes.