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: 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
dbSNP: rs1431316232
rs1431316232 		1.000 0.040 9 22006021 missense variant A/G snv
CUI: C0017638
Disease: Glioma
Glioma 		Neoplasms 0.010 1.000 1 1997 1997
dbSNP: rs1475218156
rs1475218156 		1.000 0.080 9 22006096 missense variant C/G;T snv 4.2E-06; 8.4E-06
CUI: C0025286
Disease: Meningioma
Meningioma 		Neoplasms; Nervous System Diseases 0.010 1.000 1 2001 2001
dbSNP: rs1487774219
rs1487774219 		1.000 0.040 9 22008910 missense variant T/C snv 8.1E-06
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.010 1.000 1 2006 2006
dbSNP: rs1487774219
rs1487774219 		1.000 0.040 9 22008910 missense variant T/C snv 8.1E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2006 2006
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: rs3217992
rs3217992 		0.683 0.480 9 22003224 3 prime UTR variant C/T snv 0.32
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2009 2009
dbSNP: rs768043782
rs768043782 		1.000 0.040 9 22005994 missense variant C/T snv 8.6E-06
CUI: C3811653
Disease: Experimental Organism Basal Cell Carcinoma
Experimental Organism Basal Cell Carcinoma 		Neoplasms 0.010 1.000 1 2009 2009
dbSNP: rs768043782
rs768043782 		1.000 0.040 9 22005994 missense variant C/T snv 8.6E-06
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell 		Neoplasms 0.010 1.000 1 2009 2009
dbSNP: rs495490
rs495490 		1.000 0.080 9 22010413 intron variant A/G snv 6.8E-02
CUI: C0271650
Disease: Impaired glucose tolerance
Impaired glucose tolerance 		Nutritional and Metabolic Diseases 0.010 1.000 1 2010 2010
dbSNP: rs495490
rs495490 		1.000 0.080 9 22010413 intron variant A/G snv 6.8E-02
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 2010 2010
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: 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: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs2069418
rs2069418 		1.000 0.040 9 22009699 intron variant G/C snv 0.70
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: rs3217989
rs3217989 		1.000 0.040 9 22003791 3 prime UTR variant T/C snv 7.3E-02
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2011 2011
dbSNP: rs3217992
rs3217992 		0.683 0.480 9 22003224 3 prime UTR variant C/T snv 0.32
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs3217992
rs3217992 		0.683 0.480 9 22003224 3 prime UTR variant C/T snv 0.32
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs3217992
rs3217992 		0.683 0.480 9 22003224 3 prime UTR variant C/T snv 0.32
CUI: C0017638
Disease: Glioma
Glioma 		Neoplasms 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: 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: C0595921
Disease: Intraocular pressure disorder
Intraocular pressure disorder 		Eye Diseases 0.010 1.000 1 2012 2012
dbSNP: rs2069416
rs2069416 		0.925 0.040 9 22010005 intron variant T/A;G snv
CUI: C0017612
Disease: Glaucoma, Open-Angle
Glaucoma, Open-Angle 		Eye Diseases 0.700 1.000 1 2012 2012
dbSNP: rs2069418
rs2069418 		1.000 0.040 9 22009699 intron variant G/C snv 0.70
CUI: C0017612
Disease: Glaucoma, Open-Angle
Glaucoma, Open-Angle 		Eye Diseases 0.700 1.000 1 2012 2012
dbSNP: rs3217992
rs3217992 		0.683 0.480 9 22003224 3 prime UTR variant C/T snv 0.32
CUI: C0017612
Disease: Glaucoma, Open-Angle
Glaucoma, Open-Angle 		Eye Diseases 0.700 1.000 1 2012 2012
dbSNP: rs3217992
rs3217992 		0.683 0.480 9 22003224 3 prime UTR variant C/T snv 0.32
CUI: C0017601
Disease: Glaucoma
Glaucoma 		Eye Diseases 0.700 1.000 1 2012 2012