Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs773862084
rs773862084
BBS2
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		A 0.700 CausalMutation CLINVAR Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2). 11285252

2001