Variant: rs121908175 

    present in Gene: BBS2
    present in Chromosome: 16
    Position on Chromosome: 56519791
    Alleles of this Variant: G/C

rs121908175 in BBS2 gene and Bardet-Biedl Syndrome PMID 20498079 2010 Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome.

PMID 20177705 2010 Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease.

PMID 11567139 2001 Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder.

rs121908175 in BBS2 gene and Bardet-Biedl syndrome 2 (disorder) PMID 21344540 2011 BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition.

rs121908175 in BBS2 gene and Retinitis Pigmentosa PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.