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: rs4648068
rs4648068 		0.790 0.240 4 102597148 intron variant A/G snv 0.31
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.010 1.000 1 2012 2012
dbSNP: rs4648086
rs4648086 		4 102600993 missense variant G/A snv 1.6E-03 2.9E-04
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs4648086
rs4648086 		4 102600993 missense variant G/A snv 1.6E-03 2.9E-04
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs4648127
rs4648127 		0.882 0.080 4 102614748 intron variant C/T snv 4.3E-02
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2012 2012
dbSNP: rs4648127
rs4648127 		0.882 0.080 4 102614748 intron variant C/T snv 4.3E-02
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2012 2012
dbSNP: rs4648127
rs4648127 		0.882 0.080 4 102614748 intron variant C/T snv 4.3E-02
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2012 2012
dbSNP: rs72696119
rs72696119 		0.925 0.120 4 102501347 5 prime UTR variant C/G snv 0.43
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs28362491
rs28362491 		0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.030 1.000 3 2013 2017
dbSNP: rs28362491
rs28362491 		0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.020 1.000 2 2013 2016
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: 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: 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: C0018818
Disease: Ventricular Septal Defects
Ventricular 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: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2013 2013
dbSNP: rs28720239
rs28720239 		1.000 0.080 4 102500998 non coding transcript exon variant ATTG/- delins
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2013 2013
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: rs3774968
rs3774968 		0.882 0.120 4 102609955 intron variant A/G snv 0.64
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		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: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.040 1.000 4 2014 2016
dbSNP: rs1020760
rs1020760 		0.925 0.040 4 102593288 non coding transcript exon variant C/G snv 0.42
CUI: C0033860
Disease: Psoriasis
Psoriasis 		Skin and Connective Tissue Diseases 0.020 1.000 2 2014 2016
dbSNP: rs28362491
rs28362491 		0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2014 2019
dbSNP: rs28362491
rs28362491 		0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2014 2019
dbSNP: rs202196813
rs202196813 		4 102596179 missense variant G/A;T snv 2.1E-04; 8.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		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: 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