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: rs4648143
rs4648143 		1.000 0.080 4 102616617 3 prime UTR variant G/A;T snv 5.0E-03; 4.0E-06
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		Chemically-Induced Disorders; Mental Disorders 0.010 1.000 1 2018 2018
dbSNP: rs4648143
rs4648143 		1.000 0.080 4 102616617 3 prime UTR variant G/A;T snv 5.0E-03; 4.0E-06
CUI: C0023896
Disease: Alcoholic Liver Diseases
Alcoholic Liver Diseases 		Digestive System Diseases; Chemically-Induced Disorders 0.010 1.000 1 2018 2018
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: 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: rs151134704
rs151134704 		4 102616435 splice region variant C/T snv 1.6E-04 9.1E-05
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2018 2018
dbSNP: rs151134704
rs151134704 		4 102616435 splice region variant C/T snv 1.6E-04 9.1E-05
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.700 1.000 1 2018 2018
dbSNP: rs151134704
rs151134704 		4 102616435 splice region variant C/T snv 1.6E-04 9.1E-05
CUI: C0201976
Disease: Creatinine measurement, serum (procedure)
Creatinine measurement, serum (procedure) 		0.700 1.000 1 2018 2018
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: rs764911742
rs764911742 		4 102606567 synonymous variant C/T snv 1.2E-05 1.4E-05
CUI: C0423773
Disease: Scaly skin
Scaly skin 		0.010 1.000 1 2014 2014
dbSNP: rs768698948
rs768698948 		1.000 0.080 4 102579012 missense variant G/A;T snv 8.0E-06
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs148626207
rs148626207 		4 102612593 missense variant T/C snv 8.0E-06 1.4E-05
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs773694113
rs773694113 		1.000 4 102582929 frameshift variant -/T delins 4.0E-06; 4.0E-06
CUI: C4225277
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 12
IMMUNODEFICIENCY, COMMON VARIABLE, 12 		0.700 1.000 1 2018 2018
dbSNP: rs774062108
rs774062108 		0.925 0.240 4 102607651 splice region variant T/G snv 4.0E-06
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		Chemically-Induced Disorders; Mental Disorders 0.010 1.000 1 2018 2018
dbSNP: rs774062108
rs774062108 		0.925 0.240 4 102607651 splice region variant T/G snv 4.0E-06
CUI: C0023896
Disease: Alcoholic Liver Diseases
Alcoholic Liver Diseases 		Digestive System Diseases; Chemically-Induced Disorders 0.010 1.000 1 2018 2018
dbSNP: rs774062108
rs774062108 		0.925 0.240 4 102607651 splice region variant T/G snv 4.0E-06
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1241312324
rs1241312324 		0.925 0.200 4 102567083 missense variant T/C snv 4.0E-06
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs1241312324
rs1241312324 		0.925 0.200 4 102567083 missense variant T/C snv 4.0E-06
CUI: C1275126
Disease: TNF receptor-associated periodic fever syndrome (TRAPS)
TNF receptor-associated periodic fever syndrome (TRAPS) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs28362491
rs28362491 		0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.060 1.000 6 2011 2017
dbSNP: rs28362491
rs28362491 		0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.050 1.000 5 2011 2017
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: rs28362491
rs28362491 		0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		Digestive System Diseases; Infections 0.030 1.000 3 2016 2019