PDE6H, phosphodiesterase 6H, 5149

N. diseases: 12; N. variants: 1
Disease: Retinal Cone Dystrophy 3A ×
Source: CURATED ×
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: C1864900
Disease: Retinal Cone Dystrophy 3A
Retinal Cone Dystrophy 3A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0