Variant: rs754579374 

    present in Gene: BBS7
    present in Chromosome: 4
    Position on Chromosome: 121861658
    Alleles of this Variant: C/T

rs754579374 in BBS7 gene and BARDET-BIEDL SYNDROME 7 PMID 12567324 2003 Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2.

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

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

PMID 15770229 2005 Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort.