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: 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
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 BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition. 21344540 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 Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease. 20177705 2010
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 Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort. 15770229 2005
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 Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort. 15770229 2005
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 Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort. 15770229 2005
dbSNP: rs1014835928
rs1014835928
Entrez Id: 582;254359
Gene Symbol: BBS1;ZDHHC24
BBS1;ZDHHC24
CUI: C2936862
Disease:
Bardet-Biedl syndrome 1 (disorder) 		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: rs1014835928
rs1014835928
Entrez Id: 582;254359
Gene Symbol: BBS1;ZDHHC24
BBS1;ZDHHC24
CUI: C2936862
Disease:
Bardet-Biedl syndrome 1 (disorder) 		T 0.700 GeneticVariation CLINVAR Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1). 12524598 2003
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 Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome. 12677556 2003
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 Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1). 12524598 2003
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 Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome. 12677556 2003
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 Further support for digenic inheritance in Bardet-Biedl syndrome. 12920096 2003
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 Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2. 12567324 2003
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 interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome. 12677556 2003
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 Further support for digenic inheritance in Bardet-Biedl syndrome. 12920096 2003