TLR3, toll like receptor 3, 7098

N. diseases: 393; N. variants: 24
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: rs3775290
rs3775290 		0.742 0.280 4 186083063 missense variant C/A;T snv 0.30
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		Digestive System Diseases; Infections 0.020 1.000 2 2016 2019
dbSNP: rs3775290
rs3775290 		0.742 0.280 4 186083063 missense variant C/A;T snv 0.30
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.020 1.000 2 2015 2019
dbSNP: rs121434431
rs121434431 		0.851 0.080 4 186083346 missense variant C/T snv 4.1E-04 5.2E-04
CUI: C0035222
Disease: Respiratory Distress Syndrome, Adult
Respiratory Distress Syndrome, Adult 		Respiratory Tract Diseases 0.010 1.000 1 2019 2019
dbSNP: rs121434431
rs121434431 		0.851 0.080 4 186083346 missense variant C/T snv 4.1E-04 5.2E-04
CUI: C0748355
Disease: Acute respiratory distress
Acute respiratory distress 		Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases 0.010 1.000 1 2019 2019
dbSNP: rs121434431
rs121434431 		0.851 0.080 4 186083346 missense variant C/T snv 4.1E-04 5.2E-04
CUI: C2062441
Disease: Influenza A
Influenza A 		0.010 1.000 1 2019 2019
dbSNP: rs3775290
rs3775290 		0.742 0.280 4 186083063 missense variant C/A;T snv 0.30
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		Digestive System Diseases; Infections 0.010 1.000 1 2019 2019
dbSNP: rs3775291
rs3775291 		0.602 0.640 4 186082920 missense variant C/G;T snv 1.2E-04; 0.28
CUI: C0025958
Disease: Microcephaly
Microcephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs3775291
rs3775291 		0.602 0.640 4 186082920 missense variant C/G;T snv 1.2E-04; 0.28
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs3775291
rs3775291 		0.602 0.640 4 186082920 missense variant C/G;T snv 1.2E-04; 0.28
CUI: C0276289
Disease: Zika Virus Infection
Zika Virus Infection 		Infections 0.010 1.000 1 2019 2019
dbSNP: rs3775291
rs3775291 		0.602 0.640 4 186082920 missense variant C/G;T snv 1.2E-04; 0.28
CUI: C4552332
Disease: Congenital Zika syndrome
Congenital Zika syndrome 		Infections 0.010 1.000 1 2019 2019
dbSNP: rs3775296
rs3775296 		0.851 0.160 4 186076613 splice region variant C/A snv 0.18 0.18
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: rs3775296
rs3775296 		0.851 0.160 4 186076613 splice region variant C/A snv 0.18 0.18
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2019 2019
dbSNP: rs3775296
rs3775296 		0.851 0.160 4 186076613 splice region variant C/A snv 0.18 0.18
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs5743305
rs5743305 		0.807 0.200 4 186068179 upstream gene variant T/A snv 0.35
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2019 2019
dbSNP: rs5743305
rs5743305 		0.807 0.200 4 186068179 upstream gene variant T/A snv 0.35
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: rs5743312
rs5743312 		0.827 0.160 4 186079102 intron variant C/T snv 0.14
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2019 2019
dbSNP: rs5743312
rs5743312 		0.827 0.160 4 186079102 intron variant C/T snv 0.14
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs5743312
rs5743312 		0.827 0.160 4 186079102 intron variant C/T snv 0.14
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: rs3775291
rs3775291 		0.602 0.640 4 186082920 missense variant C/G;T snv 1.2E-04; 0.28
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.060 0.667 6 2008 2018
dbSNP: rs3775291
rs3775291 		0.602 0.640 4 186082920 missense variant C/G;T snv 1.2E-04; 0.28
CUI: C0524909
Disease: Hepatitis B, Chronic
Hepatitis B, Chronic 		Digestive System Diseases; Infections 0.020 1.000 2 2013 2018
dbSNP: rs3775291
rs3775291 		0.602 0.640 4 186082920 missense variant C/G;T snv 1.2E-04; 0.28
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		Digestive System Diseases; Infections 0.020 1.000 2 2013 2018
dbSNP: rs1879026
rs1879026 		1.000 0.080 4 186079167 intron variant G/C;T snv
CUI: C0019158
Disease: Hepatitis
Hepatitis 		Digestive System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1879026
rs1879026 		1.000 0.080 4 186079167 intron variant G/C;T snv
CUI: C0019159
Disease: Hepatitis A
Hepatitis A 		Digestive System Diseases; Infections 0.010 1.000 1 2018 2018
dbSNP: rs3775291
rs3775291 		0.602 0.640 4 186082920 missense variant C/G;T snv 1.2E-04; 0.28
CUI: C1861453
Disease: Pseudohyperkalemia Cardiff
Pseudohyperkalemia Cardiff 		Nutritional and Metabolic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs3775291
rs3775291 		0.602 0.640 4 186082920 missense variant C/G;T snv 1.2E-04; 0.28
CUI: C0036205
Disease: Sarcoidosis, Pulmonary
Sarcoidosis, Pulmonary 		Respiratory Tract Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2018 2018