BBS1, Bardet-Biedl syndrome 1, 582

N. diseases: 111; N. variants: 70
Disease: Usher Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113624356
rs113624356
Entrez Id: 582;254359
Gene Symbol: BBS1;ZDHHC24
BBS1;ZDHHC24
CUI: C0271097
Disease:
Usher Syndrome 		G 0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709 2019