Disease: Bardet-Biedl syndrome 1 (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555050404
rs1555050404
Entrez Id: 582;254359
Gene Symbol: BBS1;ZDHHC24
BBS1;ZDHHC24
CUI: C2936862
Disease:
Bardet-Biedl syndrome 1 (disorder) 		A 0.700 CausalMutation CLINVAR Genetic characterization of Italian patients with Bardet-Biedl syndrome and correlation to ocular, renal and audio-vestibular phenotype: identification of eleven novel pathogenic sequence variants. 28143435 2017
dbSNP: rs1555050404
rs1555050404
Entrez Id: 582;254359
Gene Symbol: BBS1;ZDHHC24
BBS1;ZDHHC24
CUI: C2936862
Disease:
Bardet-Biedl syndrome 1 (disorder) 		A 0.700 CausalMutation CLINVAR Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome. 12677556 2003