NUP214, nucleoporin 214, 8021

N. diseases: 62; N. variants: 16
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: rs1336795098
rs1336795098 		9 131127544 synonymous variant A/G snv 7.0E-06
CUI: C0042769
Disease: Virus Diseases
Virus Diseases 		Infections 0.010 1.000 1 2015 2015
dbSNP: rs754369510
rs754369510 		0.925 0.040 9 131134988 missense variant A/G snv 4.0E-06
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs757275190
rs757275190 		1.000 9 131129441 missense variant T/A snv
CUI: C0375023
Disease: Respiratory syncytial virus (RSV) infection in conditions classified elsewhere and of unspecified site
Respiratory syncytial virus (RSV) infection in conditions classified elsewhere and of unspecified site 		0.010 1.000 1 2017 2017
dbSNP: rs143595616
rs143595616 		9 131127590 missense variant C/T snv 6.8E-05 3.5E-05
CUI: C1850719
Disease: Recurrent encephalopathy
Recurrent encephalopathy 		Nervous System Diseases 0.700 0
dbSNP: rs754369510
rs754369510 		0.925 0.040 9 131134988 missense variant A/G snv 4.0E-06
CUI: C0034089
Disease: Pulmonary Valve Stenosis
Pulmonary Valve Stenosis 		Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs754369510
rs754369510 		0.925 0.040 9 131134988 missense variant A/G snv 4.0E-06
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs746113597
rs746113597 		0.925 0.080 9 131197701 missense variant A/G snv 3.2E-05 1.1E-04
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2012 2012
dbSNP: rs143595616
rs143595616 		9 131127590 missense variant C/T snv 6.8E-05 3.5E-05
CUI: C1850456
Disease: Progressive microcephaly
Progressive microcephaly 		0.700 0
dbSNP: rs1311502646
rs1311502646 		1.000 0.120 9 131178386 missense variant C/T snv 4.0E-06
CUI: C0152268
Disease: Nodular Sclerosis Classical Hodgkin Lymphoma
Nodular Sclerosis Classical Hodgkin Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1169067903
rs1169067903 		0.925 0.040 9 131197276 missense variant G/A snv
CUI: C1833308
Disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V 		Nervous System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs574548474
rs574548474 		0.925 0.040 9 131128389 missense variant T/C snv 7.0E-06
CUI: C1833308
Disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V 		Nervous System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1486033702
rs1486033702 		9 131197966 missense variant G/A snv 8.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs1169067903
rs1169067903 		0.925 0.040 9 131197276 missense variant G/A snv
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		Nervous System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs574548474
rs574548474 		0.925 0.040 9 131128389 missense variant T/C snv 7.0E-06
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		Nervous System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1427146168
rs1427146168 		1.000 0.200 9 131140671 stop gained C/T snv
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.010 1.000 1 2013 2013
dbSNP: rs755153760
rs755153760 		1.000 0.040 9 131144504 missense variant G/A snv 1.6E-04 2.1E-05
CUI: C0162429
Disease: Malnutrition
Malnutrition 		Nutritional and Metabolic Diseases 0.010 1.000 1 2007 2007
dbSNP: rs746113597
rs746113597 		0.925 0.080 9 131197701 missense variant A/G snv 3.2E-05 1.1E-04
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2012 2012
dbSNP: rs777822003
rs777822003 		1.000 0.080 9 131197627 missense variant C/G;T snv 2.0E-05; 6.0E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1469698992
rs1469698992 		0.776 0.080 9 131190453 missense variant G/A snv
CUI: C2700440
Disease: MAJOR AFFECTIVE DISORDER 9
MAJOR AFFECTIVE DISORDER 9 		Mental Disorders 0.010 < 0.001 1 1993 1993
dbSNP: rs1469698992
rs1469698992 		0.776 0.080 9 131190453 missense variant G/A snv
CUI: C2700439
Disease: MAJOR AFFECTIVE DISORDER 8
MAJOR AFFECTIVE DISORDER 8 		Mental Disorders 0.010 < 0.001 1 1993 1993
dbSNP: rs1469698992
rs1469698992 		0.776 0.080 9 131190453 missense variant G/A snv
CUI: C2700438
Disease: MAJOR AFFECTIVE DISORDER 7
MAJOR AFFECTIVE DISORDER 7 		Mental Disorders 0.010 < 0.001 1 1993 1993
dbSNP: rs1469698992
rs1469698992 		0.776 0.080 9 131190453 missense variant G/A snv
CUI: C1970945
Disease: MAJOR AFFECTIVE DISORDER 6
MAJOR AFFECTIVE DISORDER 6 		Mental Disorders 0.010 < 0.001 1 1993 1993
dbSNP: rs1469698992
rs1469698992 		0.776 0.080 9 131190453 missense variant G/A snv
CUI: C1970943
Disease: MAJOR AFFECTIVE DISORDER 4
MAJOR AFFECTIVE DISORDER 4 		Mental Disorders 0.010 < 0.001 1 1993 1993
dbSNP: rs1469698992
rs1469698992 		0.776 0.080 9 131190453 missense variant G/A snv
CUI: C1839839
Disease: MAJOR AFFECTIVE DISORDER 2
MAJOR AFFECTIVE DISORDER 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Mental Disorders 0.010 < 0.001 1 1993 1993
dbSNP: rs1469698992
rs1469698992 		0.776 0.080 9 131190453 missense variant G/A snv
CUI: C1852197
Disease: MAJOR AFFECTIVE DISORDER 1
MAJOR AFFECTIVE DISORDER 1 		Mental Disorders 0.010 < 0.001 1 1993 1993