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: 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: 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: 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: C0011570
Disease: Mental Depression
Mental Depression 		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: 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: C0018801
Disease: Heart failure
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: 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: 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: 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: 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: 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: C0023895
Disease: Liver diseases
Liver diseases 		Digestive System Diseases 0.010 < 0.001 1 2018 2018
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: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2005 2005
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: 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: rs1061622
rs1061622 		0.633 0.760 1 12192898 missense variant T/G snv 0.22 0.22
CUI: C2826320
Disease: Refractory Neutropenia
Refractory Neutropenia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2012 2012
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: 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