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: rs28362491
rs28362491 		0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs28362491
rs28362491 		0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins
CUI: C0279671
Disease: Cervical Squamous Cell Carcinoma
Cervical Squamous Cell Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2010 2010
dbSNP: rs28362491
rs28362491 		0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs28362491
rs28362491 		0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular 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: 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: C0028960
Disease: Oligospermia
Oligospermia 		Male Urogenital Diseases 0.010 1.000 1 2016 2016
dbSNP: rs28362491
rs28362491 		0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs28362491
rs28362491 		0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs28362491
rs28362491 		0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2016 2016
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: rs28362491
rs28362491 		0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs28362491
rs28362491 		0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs28362491
rs28362491 		0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins
CUI: C1332206
Disease: Adult Lymphoma
Adult Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs28362491
rs28362491 		0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins
CUI: C0021364
Disease: Male infertility
Male infertility 		Male Urogenital Diseases 0.010 1.000 1 2016 2016
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: 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: 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: 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: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2014 2014
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: 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
dbSNP: rs4648068
rs4648068 		0.790 0.240 4 102597148 intron variant A/G snv 0.31
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.030 1.000 3 2012 2015