BBS2, Bardet-Biedl syndrome 2, 583

N. diseases: 128; N. variants: 60
Disease: Overgrowth ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs567573386
rs567573386
Entrez Id: 583
Gene Symbol: BBS2
BBS2
CUI: C1849265
Disease:
Overgrowth 		A 0.700 GeneticVariation CLINVAR Bardet-Biedl syndrome. 22713813 2013
dbSNP: rs567573386
rs567573386
Entrez Id: 583
Gene Symbol: BBS2
BBS2
CUI: C1849265
Disease:
Overgrowth 		A 0.700 GeneticVariation CLINVAR BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition. 21344540 2011
dbSNP: rs567573386
rs567573386
Entrez Id: 583
Gene Symbol: BBS2
BBS2
CUI: C1849265
Disease:
Overgrowth 		A 0.700 GeneticVariation CLINVAR A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis. 17574030 2007