CDKN2B, cyclin dependent kinase inhibitor 2B, 1030

N. diseases: 440; N. variants: 13
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: rs1063192
rs1063192 		0.695 0.520 9 22003368 3 prime UTR variant G/A;T snv
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle 		Eye Diseases 0.050 0.800 5 2011 2017
dbSNP: rs1063192
rs1063192 		0.695 0.520 9 22003368 3 prime UTR variant G/A;T snv
CUI: C0017612
Disease: Glaucoma, Open-Angle
Glaucoma, Open-Angle 		Eye Diseases 0.810 1.000 3 2012 2012
dbSNP: rs1063192
rs1063192 		0.695 0.520 9 22003368 3 prime UTR variant G/A;T snv
CUI: C0017638
Disease: Glioma
Glioma 		Neoplasms 0.710 1.000 3 2009 2018
dbSNP: rs1063192
rs1063192 		0.695 0.520 9 22003368 3 prime UTR variant G/A;T snv
CUI: C0017601
Disease: Glaucoma
Glaucoma 		Eye Diseases 0.710 1.000 2 2011 2017
dbSNP: rs1063192
rs1063192 		0.695 0.520 9 22003368 3 prime UTR variant G/A;T snv
CUI: C0152136
Disease: Low Tension Glaucoma
Low Tension Glaucoma 		Eye Diseases 0.020 1.000 2 2012 2018
dbSNP: rs1063192
rs1063192 		0.695 0.520 9 22003368 3 prime UTR variant G/A;T snv
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs1063192
rs1063192 		0.695 0.520 9 22003368 3 prime UTR variant G/A;T snv
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma 		Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1063192
rs1063192 		0.695 0.520 9 22003368 3 prime UTR variant G/A;T snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs1063192
rs1063192 		0.695 0.520 9 22003368 3 prime UTR variant G/A;T snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1063192
rs1063192 		0.695 0.520 9 22003368 3 prime UTR variant G/A;T snv
CUI: C0278876
Disease: Adult Medulloblastoma
Adult Medulloblastoma 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs1063192
rs1063192 		0.695 0.520 9 22003368 3 prime UTR variant G/A;T snv
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1063192
rs1063192 		0.695 0.520 9 22003368 3 prime UTR variant G/A;T snv
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1063192
rs1063192 		0.695 0.520 9 22003368 3 prime UTR variant G/A;T snv
CUI: C2939419
Disease: Secondary Neoplasm
Secondary Neoplasm 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs1063192
rs1063192 		0.695 0.520 9 22003368 3 prime UTR variant G/A;T snv
CUI: C1611184
Disease: Calcification of coronary artery
Calcification of coronary artery 		Nutritional and Metabolic Diseases; Cardiovascular Diseases 0.700 1.000 1 2011 2011
dbSNP: rs1063192
rs1063192 		0.695 0.520 9 22003368 3 prime UTR variant G/A;T snv
CUI: C0595921
Disease: Intraocular pressure disorder
Intraocular pressure disorder 		Eye Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1063192
rs1063192 		0.695 0.520 9 22003368 3 prime UTR variant G/A;T snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs1063192
rs1063192 		0.695 0.520 9 22003368 3 prime UTR variant G/A;T snv
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1063192
rs1063192 		0.695 0.520 9 22003368 3 prime UTR variant G/A;T snv
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1063192
rs1063192 		0.695 0.520 9 22003368 3 prime UTR variant G/A;T snv
CUI: C0080024
Disease: Piebaldism
Piebaldism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1063192
rs1063192 		0.695 0.520 9 22003368 3 prime UTR variant G/A;T snv
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs1063192
rs1063192 		0.695 0.520 9 22003368 3 prime UTR variant G/A;T snv
CUI: C0027439
Disease: Nasopharyngeal Neoplasms
Nasopharyngeal Neoplasms 		Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1063192
rs1063192 		0.695 0.520 9 22003368 3 prime UTR variant G/A;T snv
CUI: C0085207
Disease: Gestational Diabetes
Gestational Diabetes 		Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1063192
rs1063192 		0.695 0.520 9 22003368 3 prime UTR variant G/A;T snv
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs1063192
rs1063192 		0.695 0.520 9 22003368 3 prime UTR variant G/A;T snv
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs1423790481
rs1423790481 		1.000 0.040 9 22008805 missense variant G/A snv 4.5E-06
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		Neoplasms 0.700 0