WWOX, WW domain containing oxidoreductase, 51741

N. diseases: 356; N. variants: 58
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: rs587777127
rs587777127 		1.000 16 79211665 stop gained G/C;T snv 4.0E-06; 4.0E-06
CUI: C3280452
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12 		0.800 1.000 2 2014 2014
dbSNP: rs587777128
rs587777128 		1.000 16 78108454 missense variant C/A snv
CUI: C3280452
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12 		0.800 1.000 2 2014 2014
dbSNP: rs12716850
rs12716850 		16 78154006 intron variant A/C;G snv
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function 		0.800 1.000 1 2012 2012
dbSNP: rs8056446
rs8056446 		16 78154599 intron variant G/A;C snv
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function 		0.800 1.000 1 2012 2012
dbSNP: rs9923451
rs9923451 		1.000 0.080 16 78918542 intron variant A/C;G snv
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.800 1.000 1 2011 2011
dbSNP: rs730880292
rs730880292 		1.000 16 78108455 missense variant C/G snv
CUI: C4015519
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28 		0.800 0
dbSNP: rs2345443
rs2345443 		16 78191736 intron variant A/C;G snv
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.700 1.000 2 2019 2019
dbSNP: rs1079572
rs1079572 		16 78153241 intron variant G/A snv 0.57
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.700 1.000 1 2014 2014
dbSNP: rs1110544
rs1110544 		16 79165213 intron variant T/A;C snv
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2019 2019
dbSNP: rs113496184
rs113496184 		16 79006207 intron variant G/C;T snv
CUI: C0037369
Disease: Smoking
Smoking 		Behavior and Behavior Mechanisms 0.700 1.000 1 2015 2015
dbSNP: rs113496184
rs113496184 		16 79006207 intron variant G/C;T snv
CUI: C1519383
Disease: Smoking Behaviors
Smoking Behaviors 		Behavior and Behavior Mechanisms 0.700 1.000 1 2015 2015
dbSNP: rs12149527
rs12149527 		1.000 0.080 16 79076699 intron variant C/T snv 0.36
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs12445943
rs12445943 		16 78775175 intron variant G/A snv 0.17
CUI: C1704436
Disease: Peripheral Arterial Diseases
Peripheral Arterial Diseases 		Cardiovascular Diseases 0.700 1.000 1 2016 2016
dbSNP: rs12449066
rs12449066 		16 79143396 intron variant A/C;G snv
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.700 1.000 1 2019 2019
dbSNP: rs12716850
rs12716850 		16 78154006 intron variant A/C;G snv
CUI: C0035227
Disease: Respiratory Function Tests
Respiratory Function Tests 		0.700 1.000 1 2012 2012
dbSNP: rs12716852
rs12716852 		16 78154841 intron variant G/A snv 0.57
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function 		0.700 1.000 1 2011 2011
dbSNP: rs12716852
rs12716852 		16 78154841 intron variant G/A snv 0.57
CUI: C0231921
Disease: Pulmonary function
Pulmonary function 		0.700 1.000 1 2011 2011
dbSNP: rs12716852
rs12716852 		16 78154841 intron variant G/A snv 0.57
CUI: C3160731
Disease: Pulmonary function (finding)
Pulmonary function (finding) 		0.700 1.000 1 2011 2011
dbSNP: rs12716852
rs12716852 		16 78154841 intron variant G/A snv 0.57
CUI: C0035227
Disease: Respiratory Function Tests
Respiratory Function Tests 		0.700 1.000 1 2011 2011
dbSNP: rs16944118
rs16944118 		16 78773946 intron variant G/A snv 0.14
CUI: C1704436
Disease: Peripheral Arterial Diseases
Peripheral Arterial Diseases 		Cardiovascular Diseases 0.700 1.000 1 2016 2016
dbSNP: rs17706989
rs17706989 		16 78536060 intron variant C/G snv 2.6E-02
CUI: C0684328
Disease: Reasoning
Reasoning 		0.700 1.000 1 2011 2011
dbSNP: rs1875939
rs1875939 		16 78977175 intron variant G/C snv 0.95
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		Cardiovascular Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1912804
rs1912804 		0.790 0.080 16 78592686 intron variant C/G;T snv
CUI: C2675481
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 10
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 		0.700 1.000 1 2017 2017
dbSNP: rs1912804
rs1912804 		0.790 0.080 16 78592686 intron variant C/G;T snv
CUI: C3554460
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 		0.700 1.000 1 2017 2017
dbSNP: rs1912804
rs1912804 		0.790 0.080 16 78592686 intron variant C/G;T snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2017 2017