BBS2, Bardet-Biedl syndrome 2, 583

N. diseases: 128; N. variants: 60
Disease: BARDET-BIEDL SYNDROME 2/6, DIGENIC ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908180
rs121908180
Entrez Id: 583
Gene Symbol: BBS2
BBS2
CUI: C4016908
Disease:
BARDET-BIEDL SYNDROME 2/6, DIGENIC 		A 0.700 CausalMutation CLINVAR