GUCA1B, guanylate cyclase activator 1B, 2979

N. diseases: 41; N. variants: 3
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: C3151190
Disease: RETINITIS PIGMENTOSA 48
RETINITIS PIGMENTOSA 48 		0.700 1.000 1 2005 2005
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
dbSNP: rs137853903
rs137853903 		1.000 0.080 6 42188686 missense variant C/T snv 1.3E-03 5.1E-03
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2004 2004
dbSNP: rs531673296
rs531673296 		1.000 0.080 6 42185706 missense variant A/C snv 9.9E-05 2.8E-04
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2004 2004