PDE6H, phosphodiesterase 6H, 5149

N. diseases: 33; N. variants: 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: rs200311463
rs200311463 		0.827 0.160 12 14978047 stop gained C/G snv 8.4E-05 1.3E-04
CUI: C0152200
Disease: Achromatopsia
Achromatopsia 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.710 1.000 1 2012 2012
dbSNP: rs200311463
rs200311463 		0.827 0.160 12 14978047 stop gained C/G snv 8.4E-05 1.3E-04
CUI: C0339537
Disease: Cone monochromatism
Cone monochromatism 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs200311463
rs200311463 		0.827 0.160 12 14978047 stop gained C/G snv 8.4E-05 1.3E-04
CUI: C3552227
Disease: ACHROMATOPSIA 6
ACHROMATOPSIA 6 		0.700 0
dbSNP: rs200311463
rs200311463 		0.827 0.160 12 14978047 stop gained C/G snv 8.4E-05 1.3E-04
CUI: C1864900
Disease: Retinal Cone Dystrophy 3A
Retinal Cone Dystrophy 3A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs200311463
rs200311463 		0.827 0.160 12 14978047 stop gained C/G snv 8.4E-05 1.3E-04
CUI: C0302129
Disease: Achromatopsia 1
Achromatopsia 1 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.010 1.000 1 2012 2012