PDE6C, phosphodiesterase 6C, 5146

N. diseases: 37; N. variants: 30
Disease: Achromatopsia 1 ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1051925
rs1051925 		0.925 0.120 10 93640514 missense variant G/A snv 4.0E-06
CUI: C0302129
Disease: Achromatopsia 1
Achromatopsia 1 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs752963712
rs752963712 		0.882 0.160 10 93640953 stop gained G/A;T snv 8.0E-06; 4.0E-06
CUI: C0302129
Disease: Achromatopsia 1
Achromatopsia 1 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.010 1.000 1 2015 2015