Disease: Bardet-Biedl Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786204701
rs786204701
Entrez Id: 582;254359
Gene Symbol: BBS1;ZDHHC24
BBS1;ZDHHC24
CUI: C0752166
Disease:
Bardet-Biedl Syndrome 		C 0.700 GeneticVariation CLINVAR Diagnostic exome sequencing in 266 Dutch patients with visual impairment. 28224992 2017
dbSNP: rs786204701
rs786204701
Entrez Id: 582;254359
Gene Symbol: BBS1;ZDHHC24
BBS1;ZDHHC24
CUI: C0752166
Disease:
Bardet-Biedl Syndrome 		C 0.700 GeneticVariation CLINVAR BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome. 23143442 2012
dbSNP: rs786204701
rs786204701
Entrez Id: 582;254359
Gene Symbol: BBS1;ZDHHC24
BBS1;ZDHHC24
CUI: C0752166
Disease:
Bardet-Biedl Syndrome 		C 0.700 GeneticVariation CLINVAR Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1). 12524598 2003