Gene: BBS10 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555202806
rs1555202806
BBS10
T 0.700 CausalMutation CLINVAR Bardet-Biedl syndrome. 22713813

2013
dbSNP: rs549625604
rs549625604
BBS10
CA 0.700 CausalMutation CLINVAR Bardet-Biedl syndrome. 22713813

2013
dbSNP: rs768933093
rs768933093
BBS10
A 0.700 CausalMutation CLINVAR Bardet-Biedl syndrome. 22713813

2013
dbSNP: rs778431173
rs778431173
BBS10
A 0.700 GeneticVariation CLINVAR Bardet-Biedl syndrome. 22713813

2013
dbSNP: rs1555202806
rs1555202806
BBS10
T 0.700 CausalMutation CLINVAR In search of triallelism in Bardet-Biedl syndrome. 22353939

2012
dbSNP: rs549625604
rs549625604
BBS10
CA 0.700 CausalMutation CLINVAR In search of triallelism in Bardet-Biedl syndrome. 22353939

2012
dbSNP: rs768933093
rs768933093
BBS10
A 0.700 CausalMutation CLINVAR In search of triallelism in Bardet-Biedl syndrome. 22353939

2012
dbSNP: rs778431173
rs778431173
BBS10
A 0.700 GeneticVariation CLINVAR In search of triallelism in Bardet-Biedl syndrome. 22353939

2012
dbSNP: rs1555202806
rs1555202806
BBS10
T 0.700 CausalMutation CLINVAR Bardet-Biedl syndrome: a study of the renal and cardiovascular phenotypes in a French cohort. 20876674

2011
dbSNP: rs1555202806
rs1555202806
BBS10
T 0.700 CausalMutation CLINVAR Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes. 21642631

2011
dbSNP: rs1555202806
rs1555202806
BBS10
T 0.700 CausalMutation CLINVAR BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition. 21344540

2011
dbSNP: rs1555202806
rs1555202806
BBS10
T 0.700 CausalMutation CLINVAR Patients with Bardet-Biedl syndrome have hyperleptinemia suggestive of leptin resistance. 21209035

2011
dbSNP: rs549625604
rs549625604
BBS10
CA 0.700 CausalMutation CLINVAR BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition. 21344540

2011
dbSNP: rs549625604
rs549625604
BBS10
CA 0.700 CausalMutation CLINVAR Patients with Bardet-Biedl syndrome have hyperleptinemia suggestive of leptin resistance. 21209035

2011
dbSNP: rs549625604
rs549625604
BBS10
CA 0.700 CausalMutation CLINVAR Bardet-Biedl syndrome: a study of the renal and cardiovascular phenotypes in a French cohort. 20876674

2011
dbSNP: rs549625604
rs549625604
BBS10
CA 0.700 CausalMutation CLINVAR Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes. 21642631

2011
dbSNP: rs768933093
rs768933093
BBS10
A 0.700 CausalMutation CLINVAR Bardet-Biedl syndrome: a study of the renal and cardiovascular phenotypes in a French cohort. 20876674

2011
dbSNP: rs768933093
rs768933093
BBS10
A 0.700 CausalMutation CLINVAR Patients with Bardet-Biedl syndrome have hyperleptinemia suggestive of leptin resistance. 21209035

2011
dbSNP: rs768933093
rs768933093
BBS10
A 0.700 CausalMutation CLINVAR BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition. 21344540

2011
dbSNP: rs768933093
rs768933093
BBS10
A 0.700 CausalMutation CLINVAR Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes. 21642631

2011
dbSNP: rs778431173
rs778431173
BBS10
A 0.700 GeneticVariation CLINVAR Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes. 21642631

2011
dbSNP: rs778431173
rs778431173
BBS10
A 0.700 GeneticVariation CLINVAR Bardet-Biedl syndrome: a study of the renal and cardiovascular phenotypes in a French cohort. 20876674

2011
dbSNP: rs778431173
rs778431173
BBS10
A 0.700 GeneticVariation CLINVAR BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition. 21344540

2011
dbSNP: rs778431173
rs778431173
BBS10
A 0.700 GeneticVariation CLINVAR Patients with Bardet-Biedl syndrome have hyperleptinemia suggestive of leptin resistance. 21209035

2011
dbSNP: rs1555202806
rs1555202806
BBS10
T 0.700 CausalMutation CLINVAR BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly. 20080638

2010