Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs567573386
rs567573386
BBS2
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		A 0.700 GeneticVariation CLINVAR Exploration of the cognitive, adaptive and behavioral functioning of patients affected with Bardet-Biedl syndrome. 25988237

2016
dbSNP: rs567573386
rs567573386
BBS2
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		A 0.700 GeneticVariation CLINVAR Mutation analysis in 129 genes associated with other forms of retinal dystrophy in 157 families with retinitis pigmentosa based on exome sequencing. 25999675

2015
dbSNP: rs567573386
rs567573386
BBS2
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		A 0.700 GeneticVariation CLINVAR BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition. 21344540

2011