Variant: rs113994191 

    present in Gene: BBS4
    present in Chromosome: 15
    Position on Chromosome: 72722792
    Alleles of this Variant: A/C;G

rs113994191 in BBS4 gene and Bardet-Biedl syndrome 4 (disorder) PMID 26518167 2015 Targeted multi-gene panel testing for the diagnosis of Bardet Biedl syndrome: Identification of nine novel mutations across BBS1, BBS2, BBS4, BBS7, BBS9, BBS10 genes.