NFKB1, nuclear factor kappa B subunit 1, 4790

N. diseases: 551; N. variants: 52
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: rs230521
rs230521 		0.851 0.160 4 102542171 intron variant C/G snv 0.59
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs230521
rs230521 		0.851 0.160 4 102542171 intron variant C/G snv 0.59
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2011 2011
dbSNP: rs230521
rs230521 		0.851 0.160 4 102542171 intron variant C/G snv 0.59
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs230521
rs230521 		0.851 0.160 4 102542171 intron variant C/G snv 0.59
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs230530
rs230530 		0.882 0.080 4 102532823 intron variant A/G snv 0.37
CUI: C0085281
Disease: Addictive Behavior
Addictive Behavior 		Behavior and Behavior Mechanisms 0.010 1.000 1 2015 2015
dbSNP: rs230530
rs230530 		0.882 0.080 4 102532823 intron variant A/G snv 0.37
CUI: C0220630
Disease: Adult Liver Carcinoma
Adult Liver Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs230530
rs230530 		0.882 0.080 4 102532823 intron variant A/G snv 0.37
CUI: C0279000
Disease: Liver and Intrahepatic Biliary Tract Carcinoma
Liver and Intrahepatic Biliary Tract Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs230530
rs230530 		0.882 0.080 4 102532823 intron variant A/G snv 0.37
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs230534
rs230534 		0.882 0.120 4 102527884 intron variant T/C snv 0.73
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		Skin and Connective Tissue Diseases 0.700 1.000 1 2019 2019
dbSNP: rs230534
rs230534 		0.882 0.120 4 102527884 intron variant T/C snv 0.73
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs230534
rs230534 		0.882 0.120 4 102527884 intron variant T/C snv 0.73
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs230541
rs230541 		0.882 0.080 4 102576628 intron variant G/A snv 0.58
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2015 2015
dbSNP: rs230541
rs230541 		0.882 0.080 4 102576628 intron variant G/A snv 0.58
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2015 2015
dbSNP: rs230541
rs230541 		0.882 0.080 4 102576628 intron variant G/A snv 0.58
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2015 2015
dbSNP: rs3774932
rs3774932 		1.000 0.080 4 102503036 intron variant A/G;T snv
CUI: C2986665
Disease: Early-Stage Breast Carcinoma
Early-Stage Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2013 2013
dbSNP: rs3774934
rs3774934 		0.851 0.080 4 102506319 intron variant A/C;G;T snv
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2015 2015
dbSNP: rs3774934
rs3774934 		0.851 0.080 4 102506319 intron variant A/C;G;T snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2015 2015
dbSNP: rs3774934
rs3774934 		0.851 0.080 4 102506319 intron variant A/C;G;T snv
CUI: C0035222
Disease: Respiratory Distress Syndrome, Adult
Respiratory Distress Syndrome, Adult 		Respiratory Tract Diseases 0.010 1.000 1 2019 2019
dbSNP: rs3774934
rs3774934 		0.851 0.080 4 102506319 intron variant A/C;G;T snv
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2015 2015
dbSNP: rs3774937
rs3774937 		0.776 0.280 4 102513096 intron variant T/C snv 0.26
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2019 2019
dbSNP: rs3774937
rs3774937 		0.776 0.280 4 102513096 intron variant T/C snv 0.26
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs3774937
rs3774937 		0.776 0.280 4 102513096 intron variant T/C snv 0.26
CUI: C0033860
Disease: Psoriasis
Psoriasis 		Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs3774937
rs3774937 		0.776 0.280 4 102513096 intron variant T/C snv 0.26
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.700 1.000 1 2016 2016
dbSNP: rs3774937
rs3774937 		0.776 0.280 4 102513096 intron variant T/C snv 0.26
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2019 2019
dbSNP: rs3774937
rs3774937 		0.776 0.280 4 102513096 intron variant T/C snv 0.26
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2014 2014