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: 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: rs2069416
rs2069416 		0.925 0.040 9 22010005 intron variant T/A;G snv
CUI: C1846534
Disease: ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 1
ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 1 		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: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2014 2014
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
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: 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: 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: 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: 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: 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: 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: 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: 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: 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: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.700 1.000 1 2014 2014
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: 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: 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: 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: 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: 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: 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