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: rs4699030
rs4699030 		1.000 0.040 4 102582667 intron variant G/A;C snv
CUI: C0149745
Disease: Oral Ulcer
Oral Ulcer 		Stomatognathic Diseases 0.700 1.000 1 2019 2019
dbSNP: rs13117745
rs13117745 		0.882 0.080 4 102557546 intron variant C/T snv 0.18
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2015 2015
dbSNP: rs13117745
rs13117745 		0.882 0.080 4 102557546 intron variant C/T snv 0.18
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: rs13117745
rs13117745 		0.882 0.080 4 102557546 intron variant C/T snv 0.18
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2015 2015
dbSNP: rs147574894
rs147574894 		0.925 0.080 4 102600911 missense variant A/G snv 9.6E-05 3.9E-04
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: rs147574894
rs147574894 		0.925 0.080 4 102600911 missense variant A/G snv 9.6E-05 3.9E-04
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2019 2019
dbSNP: rs147574894
rs147574894 		0.925 0.080 4 102600911 missense variant A/G snv 9.6E-05 3.9E-04
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs147574894
rs147574894 		0.925 0.080 4 102600911 missense variant A/G snv 9.6E-05 3.9E-04
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs1598856
rs1598856 		1.000 0.080 4 102524958 intron variant A/G snv 0.61
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: rs1598859
rs1598859 		0.925 0.080 4 102585287 intron variant T/C snv 0.34
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: rs1598859
rs1598859 		0.925 0.080 4 102585287 intron variant T/C snv 0.34
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1598859
rs1598859 		0.925 0.080 4 102585287 intron variant T/C snv 0.34
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs1598859
rs1598859 		0.925 0.080 4 102585287 intron variant T/C snv 0.34
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs1801
rs1801 		0.882 0.080 4 102579897 intron variant 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: rs1801
rs1801 		0.882 0.080 4 102579897 intron variant 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: rs1801
rs1801 		0.882 0.080 4 102579897 intron variant 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: rs230496
rs230496 		0.882 0.080 4 102567334 intron variant G/A snv 0.59
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: rs230496
rs230496 		0.882 0.080 4 102567334 intron variant G/A snv 0.59
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs230496
rs230496 		0.882 0.080 4 102567334 intron variant G/A snv 0.59
CUI: C0220630
Disease: Adult Liver Carcinoma
Adult Liver Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs230510
rs230510 		1.000 0.080 4 102555009 intron variant T/A snv 0.37
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs230525
rs230525 		0.882 0.080 4 102537720 non coding transcript exon variant G/A snv 0.69
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2019 2019
dbSNP: rs230525
rs230525 		0.882 0.080 4 102537720 non coding transcript exon variant G/A snv 0.69
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: rs230525
rs230525 		0.882 0.080 4 102537720 non coding transcript exon variant G/A snv 0.69
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs230525
rs230525 		0.882 0.080 4 102537720 non coding transcript exon variant G/A snv 0.69
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: C0085281
Disease: Addictive Behavior
Addictive Behavior 		Behavior and Behavior Mechanisms 0.010 1.000 1 2015 2015