Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs775769424
rs775769424
BBS1 ; ZDHHC24
C 0.700 CausalMutation CLINVAR Evaluation of visual function and needs in adult patients with bardet-biedl syndrome. 25170860

2014
dbSNP: rs775769424
rs775769424
BBS1 ; ZDHHC24
C 0.700 CausalMutation CLINVAR BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition. 21344540

2011