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: 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: 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: 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: 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: 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: 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: 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: rs1560679469
rs1560679469 		1.000 4 102567039 frameshift variant -/A delins
CUI: C4225277
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 12
IMMUNODEFICIENCY, COMMON VARIABLE, 12 		0.700 0
dbSNP: rs1560711146
rs1560711146 		1.000 4 102601010 splice donor variant G/A snv
CUI: C4225277
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 12
IMMUNODEFICIENCY, COMMON VARIABLE, 12 		0.700 0
dbSNP: rs869320688
rs869320688 		1.000 4 102579043 splice region variant A/G snv
CUI: C4225277
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 12
IMMUNODEFICIENCY, COMMON VARIABLE, 12 		0.700 0
dbSNP: rs869320689
rs869320689 		1.000 4 102580641 splice donor variant T/G snv
CUI: C4225277
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 12
IMMUNODEFICIENCY, COMMON VARIABLE, 12 		0.700 0
dbSNP: rs869320754
rs869320754 		1.000 4 102576931 frameshift variant -/A delins
CUI: C4225277
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 12
IMMUNODEFICIENCY, COMMON VARIABLE, 12 		0.700 0
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: 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: rs1020760
rs1020760 		0.925 0.040 4 102593288 non coding transcript exon variant C/G snv 0.42
CUI: C0263361
Disease: Psoriasis vulgaris
Psoriasis vulgaris 		Skin and Connective Tissue Diseases 0.010 1.000 1 2016 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: rs1609798
rs1609798 		1.000 0.040 4 102616285 intron variant C/T snv 0.26
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2011 2011
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: rs4648004
rs4648004 		1.000 0.040 4 102539950 intron variant A/G snv 0.26
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2011 2011
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