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: 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
dbSNP: rs80358284
rs80358284 		0.790 0.240 11 86952443 missense variant T/A;C snv 4.0E-06; 2.4E-05
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic 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: C0266526
Disease: Norrie disease
Norrie disease 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs80358294
rs80358294 		0.882 0.080 11 86951506 missense variant C/G;T snv 1.2E-05
CUI: C1858262
Disease: EXUDATIVE VITREORETINOPATHY, DIGENIC
EXUDATIVE VITREORETINOPATHY, DIGENIC 		0.700 0
dbSNP: rs80358295
rs80358295 		0.925 0.080 11 86951471 frameshift variant GTCT/- delins 8.0E-06 2.1E-05
CUI: C0339539
Disease: Familial Exudative Vitreoretinopathy
Familial Exudative Vitreoretinopathy 		0.700 0
dbSNP: rs80358295
rs80358295 		0.925 0.080 11 86951471 frameshift variant GTCT/- delins 8.0E-06 2.1E-05
CUI: C0154832
Disease: Exudative retinopathy
Exudative retinopathy 		Eye Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs80358301
rs80358301 		1.000 0.080 11 86951272 inframe deletion CCACAT/- delins
CUI: C1851402
Disease: Exudative vitreoretinopathy 1
Exudative vitreoretinopathy 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs80358303
rs80358303 		1.000 0.080 11 86951254 frameshift variant AG/- delins
CUI: C1851402
Disease: Exudative vitreoretinopathy 1
Exudative vitreoretinopathy 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1399202268
rs1399202268 		1.000 0.080 11 86952058 missense variant G/A snv 4.0E-06
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1446132180
rs1446132180 		1.000 0.080 11 86954820 missense variant C/T snv
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2013 2013
dbSNP: rs61735304
rs61735304 		0.882 0.080 11 86954989 missense variant G/A snv 1.7E-02 1.3E-02
CUI: C0339539
Disease: Familial Exudative Vitreoretinopathy
Familial Exudative Vitreoretinopathy 		0.010 1.000 1 2010 2010
dbSNP: rs61749246
rs61749246 		1.000 0.080 11 86951140 3 prime UTR variant C/A snv 2.1E-02 1.9E-02
CUI: C0035344
Disease: Retinopathy of Prematurity
Retinopathy of Prematurity 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2018 2018
dbSNP: rs713065
rs713065 		1.000 0.080 11 86946478 3 prime UTR variant A/G snv 0.57
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2017 2017
dbSNP: rs764654861
rs764654861 		1.000 0.040 11 86951995 missense variant G/A snv 4.0E-06
CUI: C0342384
Disease: Idiopathic hypogonadotropic hypogonadism
Idiopathic hypogonadotropic hypogonadism 		Endocrine System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs774200714
rs774200714 		1.000 0.160 11 86954909 missense variant G/T snv 3.6E-05 5.6E-05
CUI: C0266526
Disease: Norrie disease
Norrie disease 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.010 1.000 1 1997 1997
dbSNP: rs80358282
rs80358282 		0.925 0.080 11 86954881 missense variant G/A snv 5.2E-04 1.5E-04
CUI: C0339539
Disease: Familial Exudative Vitreoretinopathy
Familial Exudative Vitreoretinopathy 		0.010 1.000 1 2004 2004
dbSNP: rs80358287
rs80358287 		0.925 0.080 11 86952215 missense variant A/G snv
CUI: C0339539
Disease: Familial Exudative Vitreoretinopathy
Familial Exudative Vitreoretinopathy 		0.010 1.000 1 2004 2004
dbSNP: rs80358294
rs80358294 		0.882 0.080 11 86951506 missense variant C/G;T snv 1.2E-05
CUI: C0339539
Disease: Familial Exudative Vitreoretinopathy
Familial Exudative Vitreoretinopathy 		0.010 1.000 1 2007 2007