Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs768443448
rs768443448
BBS1 ; ZDHHC24
T 0.700 GeneticVariation CLINVAR Hippocampal dysgenesis and variable neuropsychiatric phenotypes in patients with Bardet-Biedl syndrome underline complex CNS impact of primary cilia. 21517826

2011
dbSNP: rs768443448
rs768443448
BBS1 ; ZDHHC24
T 0.700 GeneticVariation CLINVAR Bardet-Biedl syndrome: a study of the renal and cardiovascular phenotypes in a French cohort. 20876674

2011
dbSNP: rs768443448
rs768443448
BBS1 ; ZDHHC24
T 0.700 GeneticVariation CLINVAR Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease. 20177705

2010
dbSNP: rs768443448
rs768443448
BBS1 ; ZDHHC24
T 0.700 GeneticVariation CLINVAR Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort. 15770229

2005
dbSNP: rs768443448
rs768443448
BBS1 ; ZDHHC24
T 0.700 GeneticVariation CLINVAR Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome. 12677556

2003
dbSNP: rs768443448
rs768443448
BBS1 ; ZDHHC24
T 0.700 CausalMutation CLINVAR