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: rs3774959
rs3774959 		0.925 0.080 4 102589957 intron variant G/A snv 0.34
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.800 1.000 1 2012 2012
dbSNP: rs113473633
rs113473633 		1.000 0.040 4 102527974 intron variant A/G snv 1.6E-02
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 2 2016 2019
dbSNP: rs3774937
rs3774937 		0.776 0.280 4 102513096 intron variant T/C snv 0.26
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.700 1.000 2 2015 2016
dbSNP: rs113473633
rs113473633 		1.000 0.040 4 102527974 intron variant A/G snv 1.6E-02
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		Endocrine System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs113473633
rs113473633 		1.000 0.040 4 102527974 intron variant A/G snv 1.6E-02
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs113473633
rs113473633 		1.000 0.040 4 102527974 intron variant A/G snv 1.6E-02
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test) 		0.700 1.000 1 2016 2016
dbSNP: rs12509403
rs12509403 		1.000 0.120 4 102604193 intron variant C/T snv 0.31
CUI: C2607914
Disease: Allergic rhinitis (disorder)
Allergic rhinitis (disorder) 		Respiratory Tract Diseases; Immune System Diseases; Otorhinolaryngologic Diseases 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: 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: 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: rs230504
rs230504 		1.000 0.040 4 102560404 intron variant T/C snv 0.69
CUI: C0013595
Disease: Eczema
Eczema 		Skin and Connective Tissue Diseases 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: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2019 2019
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: rs371681307
rs371681307 		4 102617746 downstream gene variant C/T snv 3.1E-02
CUI: C0008810
Disease: Circadian Rhythms
Circadian Rhythms 		0.700 1.000 1 2017 2017
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: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		Digestive System Diseases 0.700 1.000 1 2016 2016
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: rs4648133
rs4648133 		1.000 0.040 4 102615256 intron variant T/C snv 0.26
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		Skin and Connective Tissue Diseases 0.700 1.000 1 2019 2019
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: 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