FZD4, frizzled class receptor 4, 8322

N. diseases: 239; N. variants: 28
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: rs80358284
rs80358284 		0.790 0.240 11 86952443 missense variant T/A;C snv 4.0E-06; 2.4E-05
CUI: C1851402
Disease: Exudative vitreoretinopathy 1
Exudative vitreoretinopathy 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 13 2002 2010
dbSNP: rs80358292
rs80358292 		1.000 0.080 11 86951751 missense variant C/G snv
CUI: C1851402
Disease: Exudative vitreoretinopathy 1
Exudative vitreoretinopathy 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 13 2002 2010
dbSNP: rs80358293
rs80358293 		1.000 0.080 11 86951732 missense variant T/C snv 4.0E-06
CUI: C1851402
Disease: Exudative vitreoretinopathy 1
Exudative vitreoretinopathy 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 13 2002 2010
dbSNP: rs80358294
rs80358294 		0.882 0.080 11 86951506 missense variant C/G;T snv 1.2E-05
CUI: C1851402
Disease: Exudative vitreoretinopathy 1
Exudative vitreoretinopathy 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 13 2002 2010
dbSNP: rs104894223
rs104894223 		0.925 0.080 11 86951990 missense variant T/C snv 5.1E-04 5.2E-04
CUI: C1851402
Disease: Exudative vitreoretinopathy 1
Exudative vitreoretinopathy 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 13 2002 2010
dbSNP: rs139401671
rs139401671 		1.000 0.080 11 86954968 missense variant C/G snv 2.9E-04 2.9E-04
CUI: C1851402
Disease: Exudative vitreoretinopathy 1
Exudative vitreoretinopathy 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 13 2002 2010
dbSNP: rs61735304
rs61735304 		0.882 0.080 11 86954989 missense variant G/A snv 1.7E-02 1.3E-02
CUI: C1851402
Disease: Exudative vitreoretinopathy 1
Exudative vitreoretinopathy 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 13 2002 2010
dbSNP: rs80358281
rs80358281 		1.000 0.080 11 86954979 missense variant C/T snv 7.0E-06
CUI: C1851402
Disease: Exudative vitreoretinopathy 1
Exudative vitreoretinopathy 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 13 2002 2010
dbSNP: rs80358282
rs80358282 		0.925 0.080 11 86954881 missense variant G/A snv 5.2E-04 1.5E-04
CUI: C1851402
Disease: Exudative vitreoretinopathy 1
Exudative vitreoretinopathy 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 13 2002 2010
dbSNP: rs80358285
rs80358285 		1.000 0.080 11 86952442 missense variant A/G snv
CUI: C1851402
Disease: Exudative vitreoretinopathy 1
Exudative vitreoretinopathy 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 13 2002 2010
dbSNP: rs80358286
rs80358286 		1.000 0.080 11 86952287 missense variant T/C snv
CUI: C1851402
Disease: Exudative vitreoretinopathy 1
Exudative vitreoretinopathy 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 13 2002 2010
dbSNP: rs80358287
rs80358287 		0.925 0.080 11 86952215 missense variant A/G snv
CUI: C1851402
Disease: Exudative vitreoretinopathy 1
Exudative vitreoretinopathy 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 13 2002 2010
dbSNP: rs80358288
rs80358288 		1.000 0.080 11 86952146 missense variant A/G snv
CUI: C1851402
Disease: Exudative vitreoretinopathy 1
Exudative vitreoretinopathy 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 13 2002 2010
dbSNP: rs80358297
rs80358297 		1.000 0.080 11 86951423 missense variant T/G snv
CUI: C1851402
Disease: Exudative vitreoretinopathy 1
Exudative vitreoretinopathy 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 13 2002 2010
dbSNP: rs80358298
rs80358298 		1.000 0.080 11 86951293 missense variant C/T snv
CUI: C1851402
Disease: Exudative vitreoretinopathy 1
Exudative vitreoretinopathy 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 13 2002 2010
dbSNP: rs80358300
rs80358300 		1.000 0.080 11 86951266 missense variant G/A;C snv 1.6E-05
CUI: C1851402
Disease: Exudative vitreoretinopathy 1
Exudative vitreoretinopathy 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 13 2002 2010
dbSNP: rs80358284
rs80358284 		0.790 0.240 11 86952443 missense variant T/A;C snv 4.0E-06; 2.4E-05
CUI: C0339539
Disease: Familial Exudative Vitreoretinopathy
Familial Exudative Vitreoretinopathy 		0.700 1.000 7 2003 2016
dbSNP: rs104894223
rs104894223 		0.925 0.080 11 86951990 missense variant T/C snv 5.1E-04 5.2E-04
CUI: C0035344
Disease: Retinopathy of Prematurity
Retinopathy of Prematurity 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1064794064
rs1064794064 		1.000 0.080 11 86952145 missense variant C/T snv
CUI: C1851402
Disease: Exudative vitreoretinopathy 1
Exudative vitreoretinopathy 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs80358284
rs80358284 		0.790 0.240 11 86952443 missense variant T/A;C snv 4.0E-06; 2.4E-05
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior 		Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs80358284
rs80358284 		0.790 0.240 11 86952443 missense variant T/A;C snv 4.0E-06; 2.4E-05
CUI: C0154832
Disease: Exudative retinopathy
Exudative retinopathy 		Eye Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs80358284
rs80358284 		0.790 0.240 11 86952443 missense variant T/A;C snv 4.0E-06; 2.4E-05
CUI: C0456909
Disease: Blindness
Blindness 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs80358284
rs80358284 		0.790 0.240 11 86952443 missense variant T/A;C snv 4.0E-06; 2.4E-05
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs80358284
rs80358284 		0.790 0.240 11 86952443 missense variant T/A;C snv 4.0E-06; 2.4E-05
CUI: C0035305
Disease: Retinal Detachment
Retinal Detachment 		Eye Diseases 0.700 0
dbSNP: rs80358284
rs80358284 		0.790 0.240 11 86952443 missense variant T/A;C snv 4.0E-06; 2.4E-05
CUI: C0035313
Disease: Retinal Dysplasia
Retinal Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0