Variant: rs567573386 

    present in Gene: BBS2
    present in Chromosome: 16
    Position on Chromosome: 56484820
    Alleles of this Variant: G/A

rs567573386 in BBS2 gene and Bardet-Biedl Syndrome PMID 21344540 2011 BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition.

PMID 25988237 2016 Exploration of the cognitive, adaptive and behavioral functioning of patients affected with Bardet-Biedl syndrome.

PMID 25999675 2015 Mutation analysis in 129 genes associated with other forms of retinal dystrophy in 157 families with retinitis pigmentosa based on exome sequencing.

rs567573386 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.

PMID 25999675 2015 Mutation analysis in 129 genes associated with other forms of retinal dystrophy in 157 families with retinitis pigmentosa based on exome sequencing.

PMID 27659767 2017 Risk Factors for Severe Renal Disease in Bardet-Biedl Syndrome.

rs567573386 in BBS2 gene and Dysmorphic features PMID 17574030 2007 A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis.

PMID 21344540 2011 BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition.

PMID 22713813 2013 Bardet-Biedl syndrome.

rs567573386 in BBS2 gene and Muscle hypotonia PMID 21344540 2011 BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition.

PMID 17574030 2007 A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis.

PMID 22713813 2013 Bardet-Biedl syndrome.

rs567573386 in BBS2 gene and Overgrowth PMID 17574030 2007 A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis.

PMID 21344540 2011 BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition.

PMID 22713813 2013 Bardet-Biedl syndrome.