Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs778431173
rs778431173
CUI: C1849265
Disease: Overgrowth
Overgrowth
A 0.700 GeneticVariation CLINVAR Bardet-Biedl syndrome. 22713813

2013

dbSNP: rs778431173
rs778431173
CUI: C1849265
Disease: Overgrowth
Overgrowth
A 0.700 GeneticVariation CLINVAR In search of triallelism in Bardet-Biedl syndrome. 22353939

2012

dbSNP: rs778431173
rs778431173
CUI: C1849265
Disease: Overgrowth
Overgrowth
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
CUI: C1849265
Disease: Overgrowth
Overgrowth
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
CUI: C1849265
Disease: Overgrowth
Overgrowth
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
CUI: C1849265
Disease: Overgrowth
Overgrowth
A 0.700 GeneticVariation CLINVAR Patients with Bardet-Biedl syndrome have hyperleptinemia suggestive of leptin resistance. 21209035

2011

dbSNP: rs778431173
rs778431173
CUI: C1849265
Disease: Overgrowth
Overgrowth
A 0.700 GeneticVariation CLINVAR Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome. 20498079

2010

dbSNP: rs778431173
rs778431173
CUI: C1849265
Disease: Overgrowth
Overgrowth
A 0.700 GeneticVariation CLINVAR BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly. 20080638

2010

dbSNP: rs778431173
rs778431173
CUI: C1849265
Disease: Overgrowth
Overgrowth
A 0.700 GeneticVariation CLINVAR Bardet-Biedl syndrome in Denmark--report of 13 novel sequence variations in six genes. 20120035

2010

dbSNP: rs778431173
rs778431173
CUI: C1849265
Disease: Overgrowth
Overgrowth
A 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: rs778431173
rs778431173
CUI: C1849265
Disease: Overgrowth
Overgrowth
A 0.700 GeneticVariation CLINVAR BBS10 mutations are common in 'Meckel'-type cystic kidneys. 20805367

2010

dbSNP: rs778431173
rs778431173
CUI: C1849265
Disease: Overgrowth
Overgrowth
A 0.700 GeneticVariation CLINVAR Retinal morphology in patients with BBS1 and BBS10 related Bardet-Biedl Syndrome evaluated by Fourier-domain optical coherence tomography. 17980398

2008

dbSNP: rs778431173
rs778431173
CUI: C1849265
Disease: Overgrowth
Overgrowth
A 0.700 GeneticVariation CLINVAR BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus. 16582908

2006

dbSNP: rs778431173
rs778431173
CUI: C1849265
Disease: Overgrowth
Overgrowth
A 0.700 GeneticVariation CLINVAR Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism. 16823392

2006

dbSNP: rs778431173
rs778431173
CUI: C1849265
Disease: Overgrowth
Overgrowth
A 0.700 GeneticVariation CLINVAR Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder. 11567139

2001

dbSNP: rs778431173
rs778431173
CUI: C1849265
Disease: Overgrowth
Overgrowth
A 0.700 GeneticVariation CLINVAR Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci. 11179009

2001

dbSNP: rs778431173
rs778431173
CUI: C1849265
Disease: Overgrowth
Overgrowth
A 0.700 GeneticVariation CLINVAR New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey. 10874630

1999