Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs777509481
rs777509481
CNGA3
T 0.700 CausalMutation CLINVAR Molecular genetics of cone-rod dystrophy in Chinese patients: New data from 61 probands and mutation overview of 163 probands. 26992781

2016
dbSNP: rs777509481
rs777509481
CNGA3
T 0.700 CausalMutation CLINVAR Genetics and Disease Expression in the CNGA3 Form of Achromatopsia: Steps on the Path to Gene Therapy. 25616768

2015
dbSNP: rs777509481
rs777509481
CNGA3
T 0.700 CausalMutation CLINVAR Dark-adaptation functions in molecularly confirmed achromatopsia and the implications for assessment in retinal therapy trials. 25168900

2014
dbSNP: rs777509481
rs777509481
CNGA3
T 0.700 CausalMutation CLINVAR Retinal structure and function in achromatopsia: implications for gene therapy. 24148654

2014
dbSNP: rs777509481
rs777509481
CNGA3
T 0.700 CausalMutation CLINVAR Functional analysis of human CNGA3 mutations associated with colour blindness suggests impaired surface expression of channel mutants A3(R427C) and A3(R563C). 18445228

2008
dbSNP: rs777509481
rs777509481
CNGA3
T 0.700 CausalMutation CLINVAR Achromatopsia caused by novel mutations in both CNGA3 and CNGB3. 14757870

2004