TOLLIP, toll interacting protein, 54472

N. diseases: 40; N. variants: 10
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: rs5743890
rs5743890 		0.925 0.040 11 1304599 intron variant T/C snv 9.7E-02
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis 		Respiratory Tract Diseases 0.830 1.000 3 2013 2019
dbSNP: rs5743894
rs5743894 		1.000 0.040 11 1303542 intron variant T/A;C snv
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis 		Respiratory Tract Diseases 0.800 1.000 1 2013 2013
dbSNP: rs111521887
rs111521887 		1.000 0.040 11 1291476 intron variant C/G snv 0.12
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis 		Respiratory Tract Diseases 0.700 1.000 1 2013 2013
dbSNP: rs3168046
rs3168046 		11 1275419 3 prime UTR variant G/A snv 0.42
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial 		Respiratory Tract Diseases 0.700 1.000 1 2013 2013
dbSNP: rs3750920
rs3750920 		0.807 0.120 11 1288726 synonymous variant C/T snv 0.40 0.38
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial 		Respiratory Tract Diseases 0.700 1.000 1 2013 2013
dbSNP: rs3793964
rs3793964 		0.882 0.120 11 1280752 intron variant T/C snv 0.66
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial 		Respiratory Tract Diseases 0.700 1.000 1 2013 2013
dbSNP: rs3829223
rs3829223 		11 1279176 intron variant C/T snv 0.49
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial 		Respiratory Tract Diseases 0.700 1.000 1 2013 2013
dbSNP: rs5744034
rs5744034 		11 1275007 3 prime UTR variant A/G snv 0.13
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial 		Respiratory Tract Diseases 0.700 1.000 1 2013 2013
dbSNP: rs3750920
rs3750920 		0.807 0.120 11 1288726 synonymous variant C/T snv 0.40 0.38
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis 		Respiratory Tract Diseases 0.010 1.000 1 2015 2015
dbSNP: rs3750920
rs3750920 		0.807 0.120 11 1288726 synonymous variant C/T snv 0.40 0.38
CUI: C0023348
Disease: Leprosy, Lepromatous
Leprosy, Lepromatous 		Infections 0.010 1.000 1 2013 2013
dbSNP: rs3750920
rs3750920 		0.807 0.120 11 1288726 synonymous variant C/T snv 0.40 0.38
CUI: C0023281
Disease: Leishmaniasis
Leishmaniasis 		Infections; Skin and Connective Tissue Diseases 0.010 1.000 1 2015 2015
dbSNP: rs3750920
rs3750920 		0.807 0.120 11 1288726 synonymous variant C/T snv 0.40 0.38
CUI: C0023283
Disease: Leishmaniasis, Cutaneous
Leishmaniasis, Cutaneous 		Infections; Skin and Connective Tissue Diseases 0.010 1.000 1 2015 2015
dbSNP: rs3750920
rs3750920 		0.807 0.120 11 1288726 synonymous variant C/T snv 0.40 0.38
CUI: C0024530
Disease: Malaria
Malaria 		Infections 0.010 1.000 1 2017 2017
dbSNP: rs3750920
rs3750920 		0.807 0.120 11 1288726 synonymous variant C/T snv 0.40 0.38
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		Infections 0.010 1.000 1 2012 2012
dbSNP: rs3793964
rs3793964 		0.882 0.120 11 1280752 intron variant T/C snv 0.66
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs3793964
rs3793964 		0.882 0.120 11 1280752 intron variant T/C snv 0.66
CUI: C0023343
Disease: Leprosy
Leprosy 		Infections 0.010 1.000 1 2016 2016
dbSNP: rs3793964
rs3793964 		0.882 0.120 11 1280752 intron variant T/C snv 0.66
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs5743867
rs5743867 		0.882 0.120 11 1307121 intron variant G/A;C snv
CUI: C0243026
Disease: Sepsis
Sepsis 		Pathological Conditions, Signs and Symptoms; Infections 0.010 1.000 1 2011 2011
dbSNP: rs5743867
rs5743867 		0.882 0.120 11 1307121 intron variant G/A;C snv
CUI: C0036690
Disease: Septicemia
Septicemia 		Pathological Conditions, Signs and Symptoms; Infections 0.010 1.000 1 2011 2011
dbSNP: rs5743867
rs5743867 		0.882 0.120 11 1307121 intron variant G/A;C snv
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		Infections; Respiratory Tract Diseases 0.010 1.000 1 2018 2018
dbSNP: rs5743890
rs5743890 		0.925 0.040 11 1304599 intron variant T/C snv 9.7E-02
CUI: C0206061
Disease: Pneumonia, Interstitial
Pneumonia, Interstitial 		Respiratory Tract Diseases 0.010 1.000 1 2019 2019
dbSNP: rs5743890
rs5743890 		0.925 0.040 11 1304599 intron variant T/C snv 9.7E-02
CUI: C0002390
Disease: Extrinsic allergic alveolitis
Extrinsic allergic alveolitis 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs5743890
rs5743890 		0.925 0.040 11 1304599 intron variant T/C snv 9.7E-02
CUI: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases 		Skin and Connective Tissue Diseases 0.010 1.000 1 2019 2019
dbSNP: rs5743899
rs5743899 		0.807 0.160 11 1302334 intron variant C/T snv 0.71
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs5743899
rs5743899 		0.807 0.160 11 1302334 intron variant C/T snv 0.71
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		Infections 0.010 1.000 1 2012 2012