Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs201541131
rs201541131
PDE6B
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		T 0.700 GeneticVariation CLINVAR Re-evaluation casts doubt on the pathogenicity of homozygous USH2A p.C759F. 25823529

2015
dbSNP: rs201541131
rs201541131
PDE6B
CUI: C3151107
Disease: RETINITIS PIGMENTOSA 40 (disorder)
RETINITIS PIGMENTOSA 40 (disorder) 		T 0.700 CausalMutation CLINVAR