ADA, adenosine deaminase, 100

N. diseases: 300; N. variants: 13
Source: BEFREE ×
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: rs121908721
rs121908721 		0.882 0.160 20 44621121 missense variant G/A;C snv 2.4E-05
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases 0.710 1.000 1 2019 2019
dbSNP: rs121908715
rs121908715 		0.882 0.240 20 44620391 missense variant G/A snv 5.2E-05 2.0E-04
CUI: C0031049
Disease: Pericarditis, Tuberculous
Pericarditis, Tuberculous 		Infections; Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs121908723
rs121908723 		0.851 0.240 20 44623039 missense variant C/T snv 1.2E-05 5.6E-05
CUI: C0031049
Disease: Pericarditis, Tuberculous
Pericarditis, Tuberculous 		Infections; Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs121908723
rs121908723 		0.851 0.240 20 44623039 missense variant C/T snv 1.2E-05 5.6E-05
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs121908724
rs121908724 		0.925 0.160 20 44636264 missense variant C/T snv 7.0E-06
CUI: C0392607
Disease: Severe combined immunodeficiency due to adenosine deaminase deficiency
Severe combined immunodeficiency due to adenosine deaminase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 1994 1994
dbSNP: rs121908726
rs121908726 		0.851 0.160 20 44626570 missense variant G/C;T snv 4.0E-06
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases 0.010 1.000 1 1995 1995
dbSNP: rs121908726
rs121908726 		0.851 0.160 20 44626570 missense variant G/C;T snv 4.0E-06
CUI: C0268124
Disease: Adenosine deaminase deficiency
Adenosine deaminase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases 0.010 1.000 1 1995 1995
dbSNP: rs121908726
rs121908726 		0.851 0.160 20 44626570 missense variant G/C;T snv 4.0E-06
CUI: C0392607
Disease: Severe combined immunodeficiency due to adenosine deaminase deficiency
Severe combined immunodeficiency due to adenosine deaminase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 1995 1995
dbSNP: rs121908727
rs121908727 		0.851 0.160 20 44624272 missense variant G/T snv 1.2E-05
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases 0.010 1.000 1 1995 1995
dbSNP: rs121908727
rs121908727 		0.851 0.160 20 44624272 missense variant G/T snv 1.2E-05
CUI: C0392607
Disease: Severe combined immunodeficiency due to adenosine deaminase deficiency
Severe combined immunodeficiency due to adenosine deaminase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 1995 1995
dbSNP: rs121908727
rs121908727 		0.851 0.160 20 44624272 missense variant G/T snv 1.2E-05
CUI: C0268124
Disease: Adenosine deaminase deficiency
Adenosine deaminase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases 0.010 1.000 1 1995 1995
dbSNP: rs121908740
rs121908740 		0.882 0.160 20 44623054 missense variant G/A snv 1.3E-04 7.0E-06
CUI: C4543811
Disease: Adult-onset immunodeficiency
Adult-onset immunodeficiency 		Immune System Diseases 0.010 1.000 1 1997 1997
dbSNP: rs1359688726
rs1359688726 		1.000 0.120 20 44626514 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs379863
rs379863 		1.000 0.040 20 44632053 intron variant C/T snv 0.73
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.010 1.000 1 2016 2016
dbSNP: rs452159
rs452159 		1.000 0.040 20 44642461 intron variant G/T snv 0.28
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs452159
rs452159 		1.000 0.040 20 44642461 intron variant G/T snv 0.28
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs61732239
rs61732239 		1.000 0.120 20 44625622 missense variant C/G;T snv 1.0E-03
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes 		Immune System Diseases 0.010 1.000 1 2000 2000
dbSNP: rs73598374
rs73598374 		0.790 0.280 20 44651586 missense variant C/A;G;T snv 7.1E-06; 6.2E-02
CUI: C0018790
Disease: Cardiac Arrest
Cardiac Arrest 		Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs73598374
rs73598374 		0.790 0.280 20 44651586 missense variant C/A;G;T snv 7.1E-06; 6.2E-02
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.010 1.000 1 2008 2008
dbSNP: rs73598374
rs73598374 		0.790 0.280 20 44651586 missense variant C/A;G;T snv 7.1E-06; 6.2E-02
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 2014 2014
dbSNP: rs73598374
rs73598374 		0.790 0.280 20 44651586 missense variant C/A;G;T snv 7.1E-06; 6.2E-02
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.010 < 0.001 1 2012 2012
dbSNP: rs73598374
rs73598374 		0.790 0.280 20 44651586 missense variant C/A;G;T snv 7.1E-06; 6.2E-02
CUI: C0236734
Disease: Caffeine related disorders
Caffeine related disorders 		0.010 1.000 1 2011 2011
dbSNP: rs73598374
rs73598374 		0.790 0.280 20 44651586 missense variant C/A;G;T snv 7.1E-06; 6.2E-02
CUI: C0020452
Disease: Hyperemia
Hyperemia 		Cardiovascular Diseases 0.010 1.000 1 2008 2008
dbSNP: rs73598374
rs73598374 		0.790 0.280 20 44651586 missense variant C/A;G;T snv 7.1E-06; 6.2E-02
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.010 1.000 1 2008 2008
dbSNP: rs73598374
rs73598374 		0.790 0.280 20 44651586 missense variant C/A;G;T snv 7.1E-06; 6.2E-02
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 < 0.001 1 2016 2016