Disease: Bardet-Biedl syndrome 1 (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113624356
rs113624356
Entrez Id: 582;254359
Gene Symbol: BBS1;ZDHHC24
BBS1;ZDHHC24
CUI: C2936862
Disease:
Bardet-Biedl syndrome 1 (disorder) 		G 0.810 CausalMutation CLINVAR BBS mutations modify phenotypic expression of CEP290-related ciliopathies. 23943788 2014
dbSNP: rs113624356
rs113624356
Entrez Id: 582;254359
Gene Symbol: BBS1;ZDHHC24
BBS1;ZDHHC24
CUI: C2936862
Disease:
Bardet-Biedl syndrome 1 (disorder) 		G 0.810 CausalMutation CLINVAR Choroidal neovascularization in Bardet-Biedl syndrome. 23565731 2013
dbSNP: rs113624356
rs113624356
Entrez Id: 582;254359
Gene Symbol: BBS1;ZDHHC24
BBS1;ZDHHC24
CUI: C2936862
Disease:
Bardet-Biedl syndrome 1 (disorder) 		G 0.810 CausalMutation CLINVAR Phenotypic expression of Bardet-Biedl syndrome in patients homozygous for the common M390R mutation in the BBS1 gene. 22940089 2012
dbSNP: rs113624356
rs113624356
Entrez Id: 582;254359
Gene Symbol: BBS1;ZDHHC24
BBS1;ZDHHC24
CUI: C2936862
Disease:
Bardet-Biedl syndrome 1 (disorder) 		G 0.810 CausalMutation CLINVAR A paradigm shift in the delivery of services for diagnosis of inherited retinal disease. 22581970 2012
dbSNP: rs113624356
rs113624356
Entrez Id: 582;254359
Gene Symbol: BBS1;ZDHHC24
BBS1;ZDHHC24
CUI: C2936862
Disease:
Bardet-Biedl syndrome 1 (disorder) 		G 0.810 CausalMutation CLINVAR BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome. 23143442 2012
dbSNP: rs113624356
rs113624356
Entrez Id: 582;254359
Gene Symbol: BBS1;ZDHHC24
BBS1;ZDHHC24
CUI: C2936862
Disease:
Bardet-Biedl syndrome 1 (disorder) 		G 0.810 CausalMutation CLINVAR Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes. 21642631 2011
dbSNP: rs113624356
rs113624356
Entrez Id: 582;254359
Gene Symbol: BBS1;ZDHHC24
BBS1;ZDHHC24
CUI: C2936862
Disease:
Bardet-Biedl syndrome 1 (disorder) 		G 0.810 CausalMutation CLINVAR Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals. 21052717 2011
dbSNP: rs113624356
rs113624356
Entrez Id: 582;254359
Gene Symbol: BBS1;ZDHHC24
BBS1;ZDHHC24
CUI: C2936862
Disease:
Bardet-Biedl syndrome 1 (disorder) 		G 0.810 CausalMutation CLINVAR Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome. 20498079 2010
dbSNP: rs113624356
rs113624356
Entrez Id: 582;254359
Gene Symbol: BBS1;ZDHHC24
BBS1;ZDHHC24
CUI: C2936862
Disease:
Bardet-Biedl syndrome 1 (disorder) 		G 0.810 CausalMutation CLINVAR A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity. 18032602 2007
dbSNP: rs113624356
rs113624356
Entrez Id: 582;254359
Gene Symbol: BBS1;ZDHHC24
BBS1;ZDHHC24
CUI: C2936862
Disease:
Bardet-Biedl syndrome 1 (disorder) 		0.810 GeneticVariation BEFREE We screened these six Newfoundland families for mutations in BBS1 and found that affected individuals in five of them were homozygous for the same M390R mutation. 15517396 2005
dbSNP: rs113624356
rs113624356
Entrez Id: 582;254359
Gene Symbol: BBS1;ZDHHC24
BBS1;ZDHHC24
CUI: C2936862
Disease:
Bardet-Biedl syndrome 1 (disorder) 		G 0.810 CausalMutation CLINVAR Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome. 12677556 2003
dbSNP: rs113624356
rs113624356
Entrez Id: 582;254359
Gene Symbol: BBS1;ZDHHC24
BBS1;ZDHHC24
CUI: C2936862
Disease:
Bardet-Biedl syndrome 1 (disorder) 		G 0.810 CausalMutation CLINVAR Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1). 12524598 2003
dbSNP: rs113624356
rs113624356
Entrez Id: 582;254359
Gene Symbol: BBS1;ZDHHC24
BBS1;ZDHHC24
CUI: C2936862
Disease:
Bardet-Biedl syndrome 1 (disorder) 		G 0.810 CausalMutation CLINVAR Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome. 12118255 2002
dbSNP: rs113624356
rs113624356
Entrez Id: 582;254359
Gene Symbol: BBS1;ZDHHC24
BBS1;ZDHHC24
CUI: C2936862
Disease:
Bardet-Biedl syndrome 1 (disorder) 		0.810 GeneticVariation UNIPROT
dbSNP: rs1555050404
rs1555050404
Entrez Id: 582;254359
Gene Symbol: BBS1;ZDHHC24
BBS1;ZDHHC24
CUI: C2936862
Disease:
Bardet-Biedl syndrome 1 (disorder) 		A 0.700 CausalMutation CLINVAR Genetic characterization of Italian patients with Bardet-Biedl syndrome and correlation to ocular, renal and audio-vestibular phenotype: identification of eleven novel pathogenic sequence variants. 28143435 2017
dbSNP: rs869025205
rs869025205
Entrez Id: 582;254359
Gene Symbol: BBS1;ZDHHC24
BBS1;ZDHHC24
CUI: C2936862
Disease:
Bardet-Biedl syndrome 1 (disorder) 		T 0.700 CausalMutation CLINVAR Targeted multi-gene panel testing for the diagnosis of Bardet Biedl syndrome: Identification of nine novel mutations across BBS1, BBS2, BBS4, BBS7, BBS9, BBS10 genes. 26518167 2015
dbSNP: rs1057517143
rs1057517143
Entrez Id: 582;254359
Gene Symbol: BBS1;ZDHHC24
BBS1;ZDHHC24
CUI: C2936862
Disease:
Bardet-Biedl syndrome 1 (disorder) 		T 0.700 CausalMutation CLINVAR Evaluation of visual function and needs in adult patients with bardet-biedl syndrome. 25170860 2014
dbSNP: rs775769424
rs775769424
Entrez Id: 582;254359
Gene Symbol: BBS1;ZDHHC24
BBS1;ZDHHC24
CUI: C2936862
Disease:
Bardet-Biedl syndrome 1 (disorder) 		C 0.700 CausalMutation CLINVAR Evaluation of visual function and needs in adult patients with bardet-biedl syndrome. 25170860 2014
dbSNP: rs746875134
rs746875134
Entrez Id: 582;254359
Gene Symbol: BBS1;ZDHHC24
BBS1;ZDHHC24
CUI: C2936862
Disease:
Bardet-Biedl syndrome 1 (disorder) 		A 0.700 GeneticVariation CLINVAR Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes. 22773737 2012
dbSNP: rs121917778
rs121917778
Entrez Id: 582;254359
Gene Symbol: BBS1;ZDHHC24
BBS1;ZDHHC24
CUI: C2936862
Disease:
Bardet-Biedl syndrome 1 (disorder) 		0.700 GeneticVariation UNIPROT BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition. 21344540 2011
dbSNP: rs121917778
rs121917778
Entrez Id: 582;254359
Gene Symbol: BBS1;ZDHHC24
BBS1;ZDHHC24
CUI: C2936862
Disease:
Bardet-Biedl syndrome 1 (disorder) 		0.700 GeneticVariation UNIPROT Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals. 21052717 2011
dbSNP: rs768443448
rs768443448
Entrez Id: 582;254359
Gene Symbol: BBS1;ZDHHC24
BBS1;ZDHHC24
CUI: C2936862
Disease:
Bardet-Biedl syndrome 1 (disorder) 		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
Entrez Id: 582;254359
Gene Symbol: BBS1;ZDHHC24
BBS1;ZDHHC24
CUI: C2936862
Disease:
Bardet-Biedl syndrome 1 (disorder) 		T 0.700 GeneticVariation CLINVAR Bardet-Biedl syndrome: a study of the renal and cardiovascular phenotypes in a French cohort. 20876674 2011
dbSNP: rs775769424
rs775769424
Entrez Id: 582;254359
Gene Symbol: BBS1;ZDHHC24
BBS1;ZDHHC24
CUI: C2936862
Disease:
Bardet-Biedl syndrome 1 (disorder) 		C 0.700 CausalMutation CLINVAR BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition. 21344540 2011
dbSNP: rs778225393
rs778225393
Entrez Id: 582;254359
Gene Symbol: BBS1;ZDHHC24
BBS1;ZDHHC24
CUI: C2936862
Disease:
Bardet-Biedl syndrome 1 (disorder) 		0.700 GeneticVariation UNIPROT Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals. 21052717 2011