GUCY2D, guanylate cyclase 2D, retinal, 3000

N. diseases: 121; N. variants: 45
Disease: Rod-Cone Dystrophy ×
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: rs61750172
rs61750172 		0.807 0.080 17 8014700 missense variant C/A;T snv 4.0E-06
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.040 1.000 4 1998 2007
dbSNP: rs28933695
rs28933695 		0.851 0.080 17 8014699 missense variant G/C snv
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.020 1.000 2 1998 1999
dbSNP: rs61750173
rs61750173 		0.827 0.080 17 8014701 missense variant G/A snv
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2004 2004
dbSNP: rs61750174
rs61750174 		0.882 0.080 17 8014704 missense variant C/A;G;T snv 4.0E-06; 1.6E-05; 4.0E-06
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2000 2000