Gene: BBS1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113624356
rs113624356
BBS1 ; ZDHHC24
G 0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs376894444
rs376894444
BBS1
A 0.700 GeneticVariation CLINVAR Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort. 15770229

2005
dbSNP: rs113624356
rs113624356
BBS1 ; ZDHHC24
G 0.700 GeneticVariation CLINVAR Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome. 12118255

2002
dbSNP: rs1555050487
rs1555050487
BBS1 ; ZDHHC24
G 0.700 GeneticVariation CLINVAR

dbSNP: rs376894444
rs376894444
BBS1
A 0.700 CausalMutation CLINVAR