Disease: Retinitis Pigmentosa ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs139842473
rs139842473
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
CUI: C0035334
Disease:
Retinitis Pigmentosa 		A 0.700 GeneticVariation CLINVAR Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements. 24154662 2014
dbSNP: rs1555468632
rs1555468632
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
CUI: C0035334
Disease:
Retinitis Pigmentosa 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs386833717
rs386833717
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
CUI: C0035334
Disease:
Retinitis Pigmentosa 		C 0.700 CausalMutation CLINVAR
dbSNP: rs386833744
rs386833744
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
CUI: C0035334
Disease:
Retinitis Pigmentosa 		T 0.700 GeneticVariation CLINVAR