Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs376894444
rs376894444
BBS1
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		A 0.700 GeneticVariation CLINVAR Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort. 15770229

2005
dbSNP: rs376894444
rs376894444
BBS1
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		A 0.700 CausalMutation CLINVAR