TLR8, toll like receptor 8, 51311

N. diseases: 122; N. variants: 8
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: rs1569113445
rs1569113445 		1.000 X 12906527 intron variant G/C snv
CUI: C3887876
Disease: OSTEOARTHRITIS SUSCEPTIBILITY 1
OSTEOARTHRITIS SUSCEPTIBILITY 1 		0.700 0
dbSNP: rs1569113447
rs1569113447 		1.000 X 12906538 intron variant T/A snv
CUI: C3887876
Disease: OSTEOARTHRITIS SUSCEPTIBILITY 1
OSTEOARTHRITIS SUSCEPTIBILITY 1 		0.700 0
dbSNP: rs3764880
rs3764880 		0.752 0.320 X 12906707 start lost A/G snv 0.31 0.30
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		Infections; Respiratory Tract Diseases 0.030 1.000 3 2011 2019
dbSNP: rs3764880
rs3764880 		0.752 0.320 X 12906707 start lost A/G snv 0.31 0.30
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		Digestive System Diseases; Infections 0.030 1.000 3 2014 2018
dbSNP: rs3764879
rs3764879 		0.807 0.320 X 12906578 intron variant C/G snv 0.30
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.020 1.000 2 2014 2016
dbSNP: rs3764879
rs3764879 		0.807 0.320 X 12906578 intron variant C/G snv 0.30
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		Digestive System Diseases; Infections 0.020 1.000 2 2014 2018
dbSNP: rs3764880
rs3764880 		0.752 0.320 X 12906707 start lost A/G snv 0.31 0.30
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		Infections 0.020 1.000 2 2008 2018
dbSNP: rs3764880
rs3764880 		0.752 0.320 X 12906707 start lost A/G snv 0.31 0.30
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.020 1.000 2 2014 2016
dbSNP: rs1013151
rs1013151 		1.000 0.080 X 12914412 intron variant C/T snv 0.51
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		Digestive System Diseases; Infections 0.010 1.000 1 2015 2015
dbSNP: rs2407992
rs2407992 		0.882 0.200 X 12920993 synonymous variant G/A;C snv 0.54
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs2407992
rs2407992 		0.882 0.200 X 12920993 synonymous variant G/A;C snv 0.54
CUI: C0006271
Disease: Bronchiolitis
Bronchiolitis 		Infections; Respiratory Tract Diseases 0.010 < 0.001 1 2016 2016
dbSNP: rs2407992
rs2407992 		0.882 0.200 X 12920993 synonymous variant G/A;C snv 0.54
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs2407992
rs2407992 		0.882 0.200 X 12920993 synonymous variant G/A;C snv 0.54
CUI: C0014378
Disease: Enterovirus Infections
Enterovirus Infections 		Infections 0.010 1.000 1 2015 2015
dbSNP: rs3761624
rs3761624 		X 12905562 intron variant A/G snv 0.29
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs3764879
rs3764879 		0.807 0.320 X 12906578 intron variant C/G snv 0.30
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 < 0.001 1 2009 2009
dbSNP: rs3764879
rs3764879 		0.807 0.320 X 12906578 intron variant C/G snv 0.30
CUI: C1861453
Disease: Pseudohyperkalemia Cardiff
Pseudohyperkalemia Cardiff 		Nutritional and Metabolic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs3764879
rs3764879 		0.807 0.320 X 12906578 intron variant C/G snv 0.30
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		Infections; Respiratory Tract Diseases 0.010 1.000 1 2015 2015
dbSNP: rs3764879
rs3764879 		0.807 0.320 X 12906578 intron variant C/G snv 0.30
CUI: C0031099
Disease: Periodontitis
Periodontitis 		Stomatognathic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs3764880
rs3764880 		0.752 0.320 X 12906707 start lost A/G snv 0.31 0.30
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 < 0.001 1 2009 2009
dbSNP: rs3764880
rs3764880 		0.752 0.320 X 12906707 start lost A/G snv 0.31 0.30
CUI: C0151332
Disease: Active tuberculosis
Active tuberculosis 		Infections 0.010 1.000 1 2018 2018
dbSNP: rs3764880
rs3764880 		0.752 0.320 X 12906707 start lost A/G snv 0.31 0.30
CUI: C1861453
Disease: Pseudohyperkalemia Cardiff
Pseudohyperkalemia Cardiff 		Nutritional and Metabolic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs3764880
rs3764880 		0.752 0.320 X 12906707 start lost A/G snv 0.31 0.30
CUI: C0019099
Disease: Hemorrhagic Fever, Crimean
Hemorrhagic Fever, Crimean 		Infections 0.010 1.000 1 2010 2010
dbSNP: rs3764880
rs3764880 		0.752 0.320 X 12906707 start lost A/G snv 0.31 0.30
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2015 2015
dbSNP: rs3764880
rs3764880 		0.752 0.320 X 12906707 start lost A/G snv 0.31 0.30
CUI: C0031039
Disease: Pericardial effusion
Pericardial effusion 		Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs3764880
rs3764880 		0.752 0.320 X 12906707 start lost A/G snv 0.31 0.30
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2016 2016