PDE6B, phosphodiesterase 6B, 5158

N. diseases: 64; N. variants: 37
Disease: Retinitis Pigmentosa ×
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: rs201541131
rs201541131 		0.925 0.080 4 662197 missense variant C/T snv 1.5E-05 7.0E-06
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 1 2015 2015