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: 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: rs1061622
rs1061622 		0.633 0.760 1 12192898 missense variant T/G snv 0.22 0.22
CUI: C0014060
Disease: Encephalitis, St. Louis
Encephalitis, St. Louis 		Infections; Nervous System Diseases 0.010 1.000 1 2001 2001
dbSNP: rs1061622
rs1061622 		0.633 0.760 1 12192898 missense variant T/G snv 0.22 0.22
CUI: C0042384
Disease: Vasculitis
Vasculitis 		Cardiovascular Diseases 0.010 1.000 1 2001 2001
dbSNP: rs1061622
rs1061622 		0.633 0.760 1 12192898 missense variant T/G snv 0.22 0.22
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2002 2002
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: 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: 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: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2005 2005
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: C0409959
Disease: Osteoarthritis, Knee
Osteoarthritis, Knee 		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: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.040 1.000 4 2000 2009
dbSNP: rs1061622
rs1061622 		0.633 0.760 1 12192898 missense variant T/G snv 0.22 0.22
CUI: C0206081
Disease: Hyperandrogenism
Hyperandrogenism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.020 1.000 2 2002 2009
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: 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: 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: 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: rs1061622
rs1061622 		0.633 0.760 1 12192898 missense variant T/G snv 0.22 0.22
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: rs1061622
rs1061622 		0.633 0.760 1 12192898 missense variant T/G snv 0.22 0.22
CUI: C0392663
Disease: Infection by Wuchereria bancrofti
Infection by Wuchereria bancrofti 		Infections; Hemic and Lymphatic 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: 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: C0041296
Disease: Tuberculosis
Tuberculosis 		Infections 0.010 1.000 1 2011 2011
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: 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: 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