PDE6B, phosphodiesterase 6B, 5158

N. diseases: 64; N. variants: 37
Disease: Retinal Dystrophies ×
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: rs876657718
rs876657718 		1.000 0.080 4 625917 stop gained C/A snv 9.0E-06
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye Diseases 0.700 0