rs147030232, BBS2

N. diseases: 8
Disease: Bardet-Biedl syndrome 2 (disorder) ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Bardet-Biedl syndrome 2 (disorder)
CUI: C2936863
Disease: Bardet-Biedl syndrome 2 (disorder)
0.700 GeneticVariation CLINVAR Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes. 21642631 2011
Bardet-Biedl syndrome 2 (disorder)
CUI: C2936863
Disease: Bardet-Biedl syndrome 2 (disorder)
0.700 CausalMutation CLINVAR