Variant: rs1057516449 

    present in Gene: BBS1
    present in Chromosome: 11
    Position on Chromosome: 66511090
    Alleles of this Variant: G/A;C

rs1057516449 in BBS1 gene and Bardet-Biedl syndrome 1 (disorder) PMID 22353939 2012 In search of triallelism in Bardet-Biedl syndrome.

PMID 19797195 2010 Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mapping.