Variant: rs121908581 

    present in Gene: BBS5
    present in Chromosome: 2
    Position on Chromosome: 169487811
    Alleles of this Variant: G/A

rs121908581 in BBS5 gene and BARDET-BIEDL SYNDROME 5 PMID 21344540 2011 BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition.

PMID 18203199 2008 Novel mutations in BBS5 highlight the importance of this gene in non-Caucasian Bardet-Biedl syndrome patients.

PMID 15137946 2004 Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene.

rs121908581 in BBS5 gene and Bardet-Biedl Syndrome PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.