Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs373954146
rs373954146
CNGA3
0.700 GeneticVariation UNIPROT Identification of novel mutations by targeted exome sequencing and the genotype-phenotype assessment of patients with achromatopsia. 26493561

2015
dbSNP: rs373954146
rs373954146
CNGA3
0.700 GeneticVariation UNIPROT Identification of CNGA3 mutations in 46 families: common cause of achromatopsia and cone-rod dystrophies in Chinese patients. 24903488

2014
dbSNP: rs373954146
rs373954146
CNGA3
0.700 GeneticVariation UNIPROT Mutations in CNGA3 impair trafficking or function of cone cyclic nucleotide-gated channels, resulting in achromatopsia. 18521937

2008
dbSNP: rs373954146
rs373954146
CNGA3
0.700 GeneticVariation UNIPROT Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases. 15712225

2005
dbSNP: rs373954146
rs373954146
CNGA3
0.700 GeneticVariation UNIPROT Functional consequences of progressive cone dystrophy-associated mutations in the human cone photoreceptor cyclic nucleotide-gated channel CNGA3 subunit. 15743887

2005
dbSNP: rs373954146
rs373954146
CNGA3
0.700 GeneticVariation UNIPROT Achromatopsia caused by novel mutations in both CNGA3 and CNGB3. 14757870

2004
dbSNP: rs373954146
rs373954146
CNGA3
0.700 GeneticVariation UNIPROT CNGA3 mutations in hereditary cone photoreceptor disorders. 11536077

2001
dbSNP: rs373954146
rs373954146
CNGA3
0.700 GeneticVariation UNIPROT Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel. 9662398

1998