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: 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: rs28362491
rs28362491 		0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2013 2013
dbSNP: rs28362491
rs28362491 		0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins
CUI: C0024299
Disease: Lymphoma
Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs28362491
rs28362491 		0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins
CUI: C0948089
Disease: Acute Coronary Syndrome
Acute Coronary Syndrome 		Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs28362491
rs28362491 		0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2016 2016
dbSNP: rs28362491
rs28362491 		0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2013 2013
dbSNP: rs28362491
rs28362491 		0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins
CUI: C1332979
Disease: Childhood Lymphoma
Childhood Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs28362491
rs28362491 		0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins
CUI: C3887461
Disease: Head and Neck Carcinoma
Head and Neck Carcinoma 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs28362491
rs28362491 		0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs28362491
rs28362491 		0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins
CUI: C0278996
Disease: Malignant Head and Neck Neoplasm
Malignant Head and Neck Neoplasm 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs28362491
rs28362491 		0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2013 2013
dbSNP: rs28362491
rs28362491 		0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins
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: rs28362491
rs28362491 		0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2016 2016
dbSNP: rs28362491
rs28362491 		0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		Digestive System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs28362491
rs28362491 		0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs28362491
rs28362491 		0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2016 2016