Gene: PDE6A ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1456336365
rs1456336365
PDE6A
C 0.700 CausalMutation CLINVAR Dependable and Efficient Clinical Molecular Diagnosis of Chinese RP Patient with Targeted Exon Sequencing. 26496393

2015
dbSNP: rs1456336365
rs1456336365
PDE6A
C 0.700 CausalMutation CLINVAR Splice-site mutations identified in PDE6A responsible for retinitis pigmentosa in consanguineous Pakistani families. 26321862

2015