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: rs1061622
rs1061622 		0.633 0.760 1 12192898 missense variant T/G snv 0.22 0.22
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency 		0.010 1.000 1 2009 2009
dbSNP: rs1061622
rs1061622 		0.633 0.760 1 12192898 missense variant T/G snv 0.22 0.22
CUI: C0702166
Disease: Acne
Acne 		Skin and Connective Tissue Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1061622
rs1061622 		0.633 0.760 1 12192898 missense variant T/G snv 0.22 0.22
CUI: C0001144
Disease: Acne Vulgaris
Acne Vulgaris 		Skin and Connective Tissue Diseases 0.010 1.000 1 2010 2010
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: rs1061622
rs1061622 		0.633 0.760 1 12192898 missense variant T/G snv 0.22 0.22
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1061622
rs1061622 		0.633 0.760 1 12192898 missense variant T/G snv 0.22 0.22
CUI: C0003864
Disease: Arthritis
Arthritis 		Musculoskeletal Diseases 0.010 1.000 1 2004 2004
dbSNP: rs1061622
rs1061622 		0.633 0.760 1 12192898 missense variant T/G snv 0.22 0.22
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		Immune System Diseases 0.020 1.000 2 2001 2015
dbSNP: rs1061622
rs1061622 		0.633 0.760 1 12192898 missense variant T/G snv 0.22 0.22
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases 0.010 1.000 1 2003 2003
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: 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: rs1061622
rs1061622 		0.633 0.760 1 12192898 missense variant T/G snv 0.22 0.22
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: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs677844
rs677844 		0.851 0.080 1 12184261 intron variant T/C snv 0.22
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2019 2019
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: rs1061622
rs1061622 		0.633 0.760 1 12192898 missense variant T/G snv 0.22 0.22
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1061622
rs1061622 		0.633 0.760 1 12192898 missense variant T/G snv 0.22 0.22
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		Cardiovascular Diseases 0.010 < 0.001 1 2012 2012
dbSNP: rs1061622
rs1061622 		0.633 0.760 1 12192898 missense variant T/G snv 0.22 0.22
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1061622
rs1061622 		0.633 0.760 1 12192898 missense variant T/G snv 0.22 0.22
CUI: C0268287
Disease: Deficiency of steroid 21-monooxygenase
Deficiency of steroid 21-monooxygenase 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1061622
rs1061622 		0.633 0.760 1 12192898 missense variant T/G snv 0.22 0.22
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		Musculoskeletal Diseases 0.010 1.000 1 2006 2006
dbSNP: rs1061622
rs1061622 		0.633 0.760 1 12192898 missense variant T/G snv 0.22 0.22
CUI: C0344315
Disease: Depressed mood
Depressed mood 		Behavior and Behavior Mechanisms 0.010 1.000 1 2018 2018
dbSNP: rs1061622
rs1061622 		0.633 0.760 1 12192898 missense variant T/G snv 0.22 0.22
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		Mental Disorders 0.010 1.000 1 2018 2018
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: 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: 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
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