NFKB2, nuclear factor kappa B subunit 2, 4791

N. diseases: 194; N. variants: 12
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: rs727502787
rs727502787 		1.000 10 102402267 missense variant A/G snv
CUI: C3809991
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 10
IMMUNODEFICIENCY, COMMON VARIABLE, 10 		0.800 1.000 1 2014 2014
dbSNP: rs727502788
rs727502788 		1.000 10 102402273 missense variant C/T snv
CUI: C3809991
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 10
IMMUNODEFICIENCY, COMMON VARIABLE, 10 		0.800 1.000 1 2014 2014
dbSNP: rs397514332
rs397514332 		1.000 10 102402138 stop gained C/G;T snv 5.3E-06
CUI: C3809991
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 10
IMMUNODEFICIENCY, COMMON VARIABLE, 10 		0.700 1.000 3 2014 2015
dbSNP: rs1565214594
rs1565214594 		1.000 10 102402152 frameshift variant CACAG/- delins
CUI: C3809991
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 10
IMMUNODEFICIENCY, COMMON VARIABLE, 10 		0.700 1.000 2 2006 2013
dbSNP: rs727502786
rs727502786 		1.000 10 102402137 frameshift variant CCGAGACA/- del 1.1E-05
CUI: C3809991
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 10
IMMUNODEFICIENCY, COMMON VARIABLE, 10 		0.700 1.000 1 2014 2014
dbSNP: rs397514331
rs397514331 		0.925 10 102402144 frameshift variant A/- delins
CUI: C3149378
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 1
IMMUNODEFICIENCY, COMMON VARIABLE, 1 		0.700 0
dbSNP: rs397514331
rs397514331 		0.925 10 102402144 frameshift variant A/- delins
CUI: C3809991
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 10
IMMUNODEFICIENCY, COMMON VARIABLE, 10 		0.700 0
dbSNP: rs12769316
rs12769316 		0.925 0.160 10 102392994 upstream gene variant G/A snv 0.13
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.020 1.000 2 2018 2019
dbSNP: rs7897947
rs7897947 		1.000 0.080 10 102397954 intron variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.23
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.020 1.000 2 2018 2019
dbSNP: rs11574852
rs11574852 		1.000 0.080 10 102401718 intron variant A/C snv 2.3E-02 2.3E-02
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2018 2018
dbSNP: rs12769316
rs12769316 		0.925 0.160 10 102392994 upstream gene variant G/A snv 0.13
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma 		Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs12769316
rs12769316 		0.925 0.160 10 102392994 upstream gene variant G/A snv 0.13
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs1422727916
rs1422727916 		10 102402129 missense variant C/T snv
CUI: C0276429
Disease: Enteroviral encephalomyelitis
Enteroviral encephalomyelitis 		Pathological Conditions, Signs and Symptoms; Infections; Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs748910652
rs748910652 		1.000 0.040 10 102400759 stop gained C/T snv 8.2E-06
CUI: C0009447
Disease: Common Variable Immunodeficiency
Common Variable Immunodeficiency 		Immune System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs778148267
rs778148267 		1.000 0.080 10 102400738 missense variant G/A;T snv 4.0E-06; 4.0E-06
CUI: C1837249
Disease: Malformations of Cortical Development, Group II
Malformations of Cortical Development, Group II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2017 2017