BBS1, Bardet-Biedl syndrome 1, 582

N. diseases: 111; N. variants: 70
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: C0152021
Disease:
Congenital heart disease
G 0.700 CausalMutation CLINVAR