BBS2, Bardet-Biedl syndrome 2, 583

N. diseases: 128; N. variants: 60
Disease: Delayed speech and language development ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs147030232
rs147030232
Entrez Id: 583
Gene Symbol: BBS2
BBS2
CUI: C0454644
Disease:
Delayed speech and language development 		A 0.700 CausalMutation CLINVAR