rs1010663867, CNGA3

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Achromatopsia 1
CUI: C0302129
Disease: Achromatopsia 1
0.010 GeneticVariation BEFREE We identified three novel mutations in the pore-forming region of CNGA3 (L363P, G367V, and E376K) in patients diagnosed with achromatopsia. 20506298 2010
Achromatopsia
CUI: C0152200
Disease: Achromatopsia
0.010 GeneticVariation BEFREE We identified three novel mutations in the pore-forming region of CNGA3 (L363P, G367V, and E376K) in patients diagnosed with achromatopsia. 20506298 2010