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: 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: 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: 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: 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: 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: rs28362491
rs28362491 		0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins
CUI: C0948089
Disease: Acute Coronary Syndrome
Acute Coronary Syndrome 		Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs28362491
rs28362491 		0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins
CUI: C3887461
Disease: Head and Neck Carcinoma
Head and Neck Carcinoma 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs28362491
rs28362491 		0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins
CUI: C0278996
Disease: Malignant Head and Neck Neoplasm
Malignant Head and Neck Neoplasm 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs28362491
rs28362491 		0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins
CUI: C0030809
Disease: Pemphigus Vulgaris
Pemphigus Vulgaris 		Skin and Connective Tissue Diseases; Immune System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs28362491
rs28362491 		0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins
CUI: C0742343
Disease: Acute Chest Syndrome
Acute Chest Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs28362491
rs28362491 		0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins
CUI: C0856825
Disease: Acute GVH disease
Acute GVH disease 		Immune System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs28362491
rs28362491 		0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		Immune System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs3774934
rs3774934 		0.851 0.080 4 102506319 intron variant A/C;G;T snv
CUI: C0035222
Disease: Respiratory Distress Syndrome, Adult
Respiratory Distress Syndrome, Adult 		Respiratory Tract Diseases 0.010 1.000 1 2019 2019
dbSNP: rs3774937
rs3774937 		0.776 0.280 4 102513096 intron variant T/C snv 0.26
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: rs3774937
rs3774937 		0.776 0.280 4 102513096 intron variant T/C snv 0.26
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2019 2019
dbSNP: rs3774937
rs3774937 		0.776 0.280 4 102513096 intron variant T/C snv 0.26
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2019 2019