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: 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: 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: 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: 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: 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: 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: 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: 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