Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs750506474
rs750506474
BBS2
0.700 GeneticVariation UNIPROT BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition. 21344540

2011
dbSNP: rs750506474
rs750506474
BBS2
0.700 GeneticVariation UNIPROT 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: rs750506474
rs750506474
BBS2
0.700 GeneticVariation UNIPROT Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome. 15666242

2005
dbSNP: rs750506474
rs750506474
BBS2
0.700 GeneticVariation UNIPROT Evaluation of multiplex capillary heteroduplex analysis: a rapid and sensitive mutation screening technique. 12872256

2003
dbSNP: rs750506474
rs750506474
BBS2
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: rs750506474
rs750506474
BBS2
0.700 GeneticVariation UNIPROT Further support for digenic inheritance in Bardet-Biedl syndrome. 12920096

2003
dbSNP: rs750506474
rs750506474
BBS2
0.700 GeneticVariation UNIPROT Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2). 11285252

2001
dbSNP: rs750506474
rs750506474
BBS2
0.700 GeneticVariation UNIPROT Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder. 11567139

2001