Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs549625604
rs549625604
BBS10
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		CA 0.700 CausalMutation CLINVAR BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus. 16582908

2006