Variant: rs121908179 

    present in Gene: BBS2
    present in Chromosome: 16
    Position on Chromosome: 56514487
    Alleles of this Variant: T/G

rs121908179 in BBS2 gene and Bardet-Biedl Syndrome PMID 11567139 2001 Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder.

PMID 25541840 2015 Association between missense mutations in the BBS2 gene and nonsyndromic retinitis pigmentosa.

PMID 23829372 2014 Carrier frequency of two BBS2 mutations in the Ashkenazi population.

PMID 22410627 2012 Genotype-phenotype correlations in Bardet-Biedl syndrome.

PMID 19402160 2009 BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population.

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

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

rs121908179 in BBS2 gene and Bardet-Biedl syndrome 2 (disorder) PMID 20498079 2010 Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome.

PMID 11285252 2001 Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2).

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

PMID 16823392 2006 Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism.

PMID 23829372 2014 Carrier frequency of two BBS2 mutations in the Ashkenazi population.

PMID 12677556 2003 Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.

PMID 12872256 2003 Evaluation of multiplex capillary heteroduplex analysis: a rapid and sensitive mutation screening technique.

PMID 22410627 2012 Genotype-phenotype correlations in Bardet-Biedl syndrome.

PMID 15666242 2005 Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome.

PMID 12920096 2003 Further support for digenic inheritance in Bardet-Biedl syndrome.

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

rs121908179 in BBS2 gene and RETINITIS PIGMENTOSA 74 PMID 25541840 2015 Association between missense mutations in the BBS2 gene and nonsyndromic retinitis pigmentosa.