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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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
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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: rs61735303
rs61735303 		1.000 0.080 11 86952254 missense variant G/A snv 1.8E-02 1.4E-02
CUI: C0035344
Disease: Retinopathy of Prematurity
Retinopathy of Prematurity 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.020 1.000 2 2009 2018
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: rs919205099
rs919205099 		1.000 11 86952386 missense variant C/T snv 4.0E-06
CUI: C0339539
Disease: Familial Exudative Vitreoretinopathy
Familial Exudative Vitreoretinopathy 		0.010 1.000 1 2010 2010