Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs567573386
rs567573386
BBS2
A 0.700 GeneticVariation CLINVAR Bardet-Biedl syndrome. 22713813

2013
dbSNP: rs567573386
rs567573386
BBS2
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: rs567573386
rs567573386
BBS2
A 0.700 GeneticVariation CLINVAR A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis. 17574030

2007