GUCA1A, guanylate cyclase activator 1A, 2978

N. diseases: 55; N. variants: 8
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: rs104893967
rs104893967 		0.827 0.080 6 42178374 missense variant A/G snv
CUI: C1865869
Disease: CONE DYSTROPHY 3 (disorder)
CONE DYSTROPHY 3 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 8 1998 2009
dbSNP: rs104893968
rs104893968 		0.790 0.200 6 42173762 missense variant C/G;T snv 4.0E-06; 1.2E-03
CUI: C1865869
Disease: CONE DYSTROPHY 3 (disorder)
CONE DYSTROPHY 3 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 8 1998 2009
dbSNP: rs121434631
rs121434631 		0.807 0.080 6 42179248 missense variant C/G;T snv 4.0E-06
CUI: C1865869
Disease: CONE DYSTROPHY 3 (disorder)
CONE DYSTROPHY 3 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 0
dbSNP: rs104893967
rs104893967 		0.827 0.080 6 42178374 missense variant A/G snv
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		Eye Diseases 0.700 1.000 1 1998 1998
dbSNP: rs104893967
rs104893967 		0.827 0.080 6 42178374 missense variant A/G snv
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 1 1998 1998
dbSNP: rs104893968
rs104893968 		0.790 0.200 6 42173762 missense variant C/G;T snv 4.0E-06; 1.2E-03
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		Eye Diseases 0.700 1.000 1 2019 2019
dbSNP: rs104893968
rs104893968 		0.790 0.200 6 42173762 missense variant C/G;T snv 4.0E-06; 1.2E-03
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1554186385
rs1554186385 		6 42178410 missense variant A/C snv
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye Diseases 0.700 0
dbSNP: rs1554186441
rs1554186441 		1.000 0.080 6 42178809 missense variant GC/TT mnv
CUI: C1865869
Disease: CONE DYSTROPHY 3 (disorder)
CONE DYSTROPHY 3 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs869320709
rs869320709 		1.000 0.080 6 42178328 missense variant C/T snv
CUI: C1865869
Disease: CONE DYSTROPHY 3 (disorder)
CONE DYSTROPHY 3 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs869320710
rs869320710 		1.000 0.080 6 42178398 missense variant T/C snv 4.0E-06
CUI: C1865869
Disease: CONE DYSTROPHY 3 (disorder)
CONE DYSTROPHY 3 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs104893967
rs104893967 		0.827 0.080 6 42178374 missense variant A/G snv
CUI: C1867326
Disease: RETINAL CONE DYSTROPHY 1
RETINAL CONE DYSTROPHY 1 		Eye Diseases 0.030 1.000 3 1998 2000
dbSNP: rs104893968
rs104893968 		0.790 0.200 6 42173762 missense variant C/G;T snv 4.0E-06; 1.2E-03
CUI: C1867326
Disease: RETINAL CONE DYSTROPHY 1
RETINAL CONE DYSTROPHY 1 		Eye Diseases 0.020 1.000 2 2000 2004
dbSNP: rs104893968
rs104893968 		0.790 0.200 6 42173762 missense variant C/G;T snv 4.0E-06; 1.2E-03
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.020 1.000 2 2001 2001
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: rs104893968
rs104893968 		0.790 0.200 6 42173762 missense variant C/G;T snv 4.0E-06; 1.2E-03
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.020 1.000 2 2001 2001
dbSNP: rs104893967
rs104893967 		0.827 0.080 6 42178374 missense variant A/G snv
CUI: C3665342
Disease: Progressive Cone Dystrophy
Progressive Cone Dystrophy 		Eye Diseases 0.010 1.000 1 2005 2005
dbSNP: rs104893968
rs104893968 		0.790 0.200 6 42173762 missense variant C/G;T snv 4.0E-06; 1.2E-03
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye Diseases 0.010 1.000 1 2019 2019
dbSNP: rs121434631
rs121434631 		0.807 0.080 6 42179248 missense variant C/G;T snv 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 2013 2013
dbSNP: rs121434631
rs121434631 		0.807 0.080 6 42179248 missense variant C/G;T snv 4.0E-06
CUI: C1998028
Disease: Photoreceptor degeneration
Photoreceptor degeneration 		Eye Diseases 0.010 1.000 1 2013 2013
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
dbSNP: rs121434631
rs121434631 		0.807 0.080 6 42179248 missense variant C/G;T snv 4.0E-06
CUI: C1867326
Disease: RETINAL CONE DYSTROPHY 1
RETINAL CONE DYSTROPHY 1 		Eye Diseases 0.010 1.000 1 2005 2005
dbSNP: rs121434631
rs121434631 		0.807 0.080 6 42179248 missense variant C/G;T snv 4.0E-06
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2013 2013
dbSNP: rs771261841
rs771261841 		1.000 0.080 6 42178419 missense variant C/T snv 3.6E-05 7.0E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2004 2004