IL1B, interleukin 1 beta, 3553

N. diseases: 1801; N. variants: 22
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: rs1143634
rs1143634 		0.597 0.680 2 112832813 synonymous variant G/A snv 0.19 0.19
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.020 1.000 2 2010 2015
dbSNP: rs1143634
rs1143634 		0.597 0.680 2 112832813 synonymous variant G/A snv 0.19 0.19
CUI: C0014121
Disease: Bacterial Endocarditis
Bacterial Endocarditis 		Infections; Cardiovascular Diseases 0.020 1.000 2 2014 2017
dbSNP: rs1143634
rs1143634 		0.597 0.680 2 112832813 synonymous variant G/A snv 0.19 0.19
CUI: C0001339
Disease: Acute pancreatitis
Acute pancreatitis 		Digestive System Diseases 0.020 0.500 2 2013 2015
dbSNP: rs1143634
rs1143634 		0.597 0.680 2 112832813 synonymous variant G/A snv 0.19 0.19
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.020 1.000 2 2010 2015
dbSNP: rs1143634
rs1143634 		0.597 0.680 2 112832813 synonymous variant G/A snv 0.19 0.19
CUI: C0035851
Disease: Root Resorption
Root Resorption 		Stomatognathic Diseases 0.020 1.000 2 2012 2014
dbSNP: rs16944
rs16944 		0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57
CUI: C0011570
Disease: Mental Depression
Mental Depression 		Behavior and Behavior Mechanisms 0.020 1.000 2 2016 2019
dbSNP: rs16944
rs16944 		0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.020 1.000 2 2018 2018
dbSNP: rs16944
rs16944 		0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		Mental Disorders 0.020 1.000 2 2016 2019
dbSNP: rs16944
rs16944 		0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.020 1.000 2 2014 2015
dbSNP: rs16944
rs16944 		0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.020 1.000 2 2016 2017
dbSNP: rs16944
rs16944 		0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		Nervous System Diseases; Mental Disorders 0.020 1.000 2 2010 2011
dbSNP: rs16944
rs16944 		0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57
CUI: C0036690
Disease: Septicemia
Septicemia 		Pathological Conditions, Signs and Symptoms; Infections 0.020 0.500 2 2014 2016
dbSNP: rs16944
rs16944 		0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.020 1.000 2 2015 2019
dbSNP: rs16944
rs16944 		0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57
CUI: C0018213
Disease: Graves Disease
Graves Disease 		Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.020 1.000 2 2010 2018
dbSNP: rs16944
rs16944 		0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57
CUI: C0243026
Disease: Sepsis
Sepsis 		Pathological Conditions, Signs and Symptoms; Infections 0.020 0.500 2 2014 2016
dbSNP: rs16944
rs16944 		0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.020 1.000 2 2014 2015
dbSNP: rs16944
rs16944 		0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57
CUI: C0344315
Disease: Depressed mood
Depressed mood 		Behavior and Behavior Mechanisms 0.020 1.000 2 2016 2019
dbSNP: rs16944
rs16944 		0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57
CUI: C0015672
Disease: Fatigue
Fatigue 		Pathological Conditions, Signs and Symptoms 0.020 0.500 2 2011 2012
dbSNP: rs16944
rs16944 		0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57
CUI: C4048328
Disease: cervical cancer
cervical cancer 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.020 1.000 2 2015 2019
dbSNP: rs16944
rs16944 		0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		Musculoskeletal Diseases 0.020 1.000 2 2010 2013
dbSNP: rs16944
rs16944 		0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57
CUI: C0497327
Disease: Dementia
Dementia 		Nervous System Diseases; Mental Disorders 0.020 1.000 2 2010 2011
dbSNP: rs16944
rs16944 		0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57
CUI: C0031090
Disease: Periodontal Diseases
Periodontal Diseases 		Stomatognathic Diseases 0.020 0.500 2 2014 2019
dbSNP: rs16944
rs16944 		0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57
CUI: C0022578
Disease: Keratoconus
Keratoconus 		Eye Diseases 0.020 1.000 2 2008 2013
dbSNP: rs2853550
rs2853550 		0.882 0.120 2 112829544 downstream gene variant A/G snv 0.83
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.020 1.000 2 2017 2020
dbSNP: rs1043973338
rs1043973338 		0.882 0.080 2 112830483 missense variant A/C snv
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2007 2007