PDE6B, phosphodiesterase 6B, 5158

N. diseases: 64; N. variants: 37
Disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 2 ×
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: rs121918582
rs121918582 		0.882 0.080 4 653912 missense variant C/A snv
CUI: C1876182
Disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 2
NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 1 1994 1994