GUCA1A, guanylate cyclase activator 1A, 2978

N. diseases: 55; N. variants: 8
Disease: Cone-Rod 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: rs104893968
rs104893968 		0.790 0.200 6 42173762 missense variant C/G;T snv 4.0E-06; 1.2E-03
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.020 1.000 2 2001 2001
dbSNP: rs121434631
rs121434631 		0.807 0.080 6 42179248 missense variant C/G;T snv 4.0E-06
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2013 2013