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: 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: rs2069416
rs2069416
0.925 0.040 9 22010005 intron variant T/A;G snv
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: C1611184
Disease: Calcification of coronary artery
Calcification of coronary artery
Nutritional and Metabolic Diseases; Cardiovascular Diseases 0.700 1.000 2 2011 2013
dbSNP: rs1063192
rs1063192
0.695 0.520 9 22003368 3 prime UTR variant G/A;T snv
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: 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: C0027439
Disease: Nasopharyngeal Neoplasms
Nasopharyngeal Neoplasms
Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2016 2016
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: 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: rs2069426
rs2069426
1.000 0.120 9 22006274 intron variant G/A;C;T snv 4.4E-06; 4.4E-06; 7.5E-02
Precursor Cell Lymphoblastic Leukemia Lymphoma
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 2018 2018
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: 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
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: 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: 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: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
Cardiovascular Diseases 0.700 1.000 1 2014 2014
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: 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: 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
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: C0278876
Disease: Adult Medulloblastoma
Adult Medulloblastoma
Neoplasms 0.010 1.000 1 2018 2018