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: rs746875134
rs746875134
Entrez Id: 582;254359
Gene Symbol: BBS1;ZDHHC24
BBS1;ZDHHC24
CUI: C2936862
Disease:
Bardet-Biedl syndrome 1 (disorder) 		A 0.700 GeneticVariation CLINVAR Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes. 22773737 2012
dbSNP: rs746875134
rs746875134
Entrez Id: 582;254359
Gene Symbol: BBS1;ZDHHC24
BBS1;ZDHHC24
CUI: C2936862
Disease:
Bardet-Biedl syndrome 1 (disorder) 		A 0.700 GeneticVariation CLINVAR Further support for digenic inheritance in Bardet-Biedl syndrome. 12920096 2003