rs768345097, CNGB3

N. diseases: 1
Disease: Achromatopsia 3 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Achromatopsia 3
CUI: C1849792
Disease: Achromatopsia 3
0.700 CausalMutation CLINVAR CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients. 28795510 2017
Achromatopsia 3
CUI: C1849792
Disease: Achromatopsia 3
0.700 GeneticVariation CLINVAR CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia. 15657609 2005