GUCA1B, guanylate cyclase activator 1B, 2979

N. diseases: 41; N. variants: 3
Disease: Blindness ×
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: rs121909124
rs121909124 		1.000 6 42185686 missense variant C/T snv 1.0E-04 3.5E-05
CUI: C0456909
Disease: Blindness
Blindness 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.010 1.000 1 2018 2018