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: 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: 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: rs3217978
rs3217978 		1.000 0.040 9 22007331 intron variant C/A snv 1.2E-02
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.700 1.000 1 2018 2018
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: rs3217992
rs3217992 		0.683 0.480 9 22003224 3 prime UTR variant C/T snv 0.32
CUI: C1611184
Disease: Calcification of coronary artery
Calcification of coronary artery 		Nutritional and Metabolic Diseases; Cardiovascular Diseases 0.700 1.000 2 2011 2013
dbSNP: rs3217992
rs3217992 		0.683 0.480 9 22003224 3 prime UTR variant C/T snv 0.32
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.010 < 0.001 1 2018 2018
dbSNP: rs3217992
rs3217992 		0.683 0.480 9 22003224 3 prime UTR variant C/T snv 0.32
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 2020 2020
dbSNP: rs3217992
rs3217992 		0.683 0.480 9 22003224 3 prime UTR variant C/T snv 0.32
CUI: C4025886
Disease: Severe periodontitis
Severe periodontitis 		Stomatognathic Diseases 0.010 < 0.001 1 2018 2018
dbSNP: rs3217992
rs3217992 		0.683 0.480 9 22003224 3 prime UTR variant C/T snv 0.32
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2017 2017
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: C0595921
Disease: Intraocular pressure disorder
Intraocular pressure disorder 		Eye Diseases 0.010 1.000 1 2013 2013
dbSNP: rs3217992
rs3217992 		0.683 0.480 9 22003224 3 prime UTR variant C/T snv 0.32
CUI: C0031099
Disease: Periodontitis
Periodontitis 		Stomatognathic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs3217992
rs3217992 		0.683 0.480 9 22003224 3 prime UTR variant C/T snv 0.32
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		Neoplasms 0.010 1.000 1 2019 2019
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: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs3217992
rs3217992 		0.683 0.480 9 22003224 3 prime UTR variant C/T snv 0.32
CUI: C1842247
Disease: CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1
CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 1.000 1 2013 2013
dbSNP: rs3217992
rs3217992 		0.683 0.480 9 22003224 3 prime UTR variant C/T snv 0.32
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs3217992
rs3217992 		0.683 0.480 9 22003224 3 prime UTR variant C/T snv 0.32
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.010 1.000 1 2016 2016
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: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.010 1.000 1 2019 2019
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: rs3217992
rs3217992 		0.683 0.480 9 22003224 3 prime UTR variant C/T snv 0.32
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		Neoplasms 0.010 1.000 1 2019 2019
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
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