Variant: rs1054138918

present in Gene: BBS5 present in Chromosome: 2 Position on Chromosome: 169487068 Alleles of this Variant: G/C

rs1054138918 in BBS5 gene and Bardet-Biedl Syndrome PMID 15137946 2004 Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene.