TNFRSF1B, TNF receptor superfamily member 1B, 7133

N. diseases: 417; N. variants: 18
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: rs5746009
rs5746009 		1.000 0.040 1 12189511 intron variant A/C snv 8.0E-02
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		Endocrine System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs5746017
rs5746017 		1 12191284 intron variant A/C snv 5.2E-02
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs1061624
rs1061624 		0.776 0.320 1 12207208 3 prime UTR variant A/G snv 0.48
CUI: C0007113
Disease: Rectal Carcinoma
Rectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs1061624
rs1061624 		0.776 0.320 1 12207208 3 prime UTR variant A/G snv 0.48
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1061624
rs1061624 		0.776 0.320 1 12207208 3 prime UTR variant A/G snv 0.48
CUI: C0036349
Disease: Paranoid Schizophrenia
Paranoid Schizophrenia 		Mental Disorders 0.010 1.000 1 2018 2018
dbSNP: rs1061624
rs1061624 		0.776 0.320 1 12207208 3 prime UTR variant A/G snv 0.48
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1061624
rs1061624 		0.776 0.320 1 12207208 3 prime UTR variant A/G snv 0.48
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2018 2018
dbSNP: rs1061624
rs1061624 		0.776 0.320 1 12207208 3 prime UTR variant A/G snv 0.48
CUI: C0151517
Disease: Complete atrioventricular block
Complete atrioventricular block 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1061624
rs1061624 		0.776 0.320 1 12207208 3 prime UTR variant A/G snv 0.48
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1061624
rs1061624 		0.776 0.320 1 12207208 3 prime UTR variant A/G snv 0.48
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		Infections 0.010 1.000 1 2011 2011
dbSNP: rs781754593
rs781754593 		1.000 0.040 1 12202039 missense variant A/G snv 4.2E-06
CUI: C0017638
Disease: Glioma
Glioma 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs945439
rs945439 		1.000 0.080 1 12188885 synonymous variant A/G snv 0.22 0.22
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs235216
rs235216 		1 12209567 downstream gene variant C/A;G;T snv
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs235216
rs235216 		1 12209567 downstream gene variant C/A;G;T snv
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs235216
rs235216 		1 12209567 downstream gene variant C/A;G;T snv
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs201545665
rs201545665 		1.000 0.080 1 12192924 missense variant C/G snv 2.1E-03 1.8E-03
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2002 2002
dbSNP: rs142907823
rs142907823 		1.000 0.040 1 12188800 missense variant C/T snv 4.0E-06
CUI: C0001339
Disease: Acute pancreatitis
Acute pancreatitis 		Digestive System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs17884213
rs17884213 		1.000 0.080 1 12203488 intron variant C/T snv 0.20
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs3397
rs3397 		1.000 0.040 1 12207235 3 prime UTR variant C/T snv 0.51
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		Infections 0.010 1.000 1 2010 2010
dbSNP: rs474247
rs474247 		1 12186118 intron variant C/T snv 0.18
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs5745994
rs5745994 		1 12187071 intron variant C/T snv 2.2E-02
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs5746026
rs5746026 		1.000 0.080 1 12193005 missense variant G/A snv 2.7E-02 2.5E-02
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.010 < 0.001 1 2000 2000
dbSNP: rs5745946
rs5745946 		1 12166729 upstream gene variant GCCGGGCAGGTGGAG/-;GCCGGGCAGGTGGAGGCCGGGCAGGTGGAG delins 0.30
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders 		Nervous System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs652625
rs652625 		1.000 0.080 1 12165294 upstream gene variant T/A snv 0.14
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2011 2011
dbSNP: rs235249
rs235249 		1.000 0.080 1 12198174 intron variant T/C snv 0.23
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2011 2011