CAT, catalase, 847

N. diseases: 794; N. variants: 14
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: rs1402522059
rs1402522059 		1.000 0.080 11 34449312 missense variant C/G;T snv 4.0E-06
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 < 0.001 1 1997 1997
dbSNP: rs1428168076
rs1428168076 		1.000 0.120 11 34452152 missense variant A/C snv 8.0E-06 7.0E-06
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2002 2002
dbSNP: rs1001179
rs1001179 		0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.020 0.500 2 2006 2018
dbSNP: rs769217
rs769217 		0.742 0.440 11 34461361 synonymous variant C/T snv 0.25 0.22
CUI: C0011882
Disease: Diabetic Neuropathies
Diabetic Neuropathies 		Nervous System Diseases; Endocrine System Diseases 0.010 1.000 1 2006 2006
dbSNP: rs769217
rs769217 		0.742 0.440 11 34461361 synonymous variant C/T snv 0.25 0.22
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.010 < 0.001 1 2006 2006
dbSNP: rs1001179
rs1001179 		0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2008 2008
dbSNP: rs1001179
rs1001179 		0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16
CUI: C0027859
Disease: Acoustic Neuroma
Acoustic Neuroma 		Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs769214
rs769214 		0.925 0.160 11 34438170 upstream gene variant G/A snv 0.61
CUI: C0162429
Disease: Malnutrition
Malnutrition 		Nutritional and Metabolic Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1001179
rs1001179 		0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2012 2016
dbSNP: rs1001179
rs1001179 		0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2012 2016
dbSNP: rs1212131663
rs1212131663 		1.000 0.080 11 34439050 stop gained C/T snv 7.0E-06
CUI: C0268419
Disease: Acatalasia
Acatalasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.020 1.000 2 2012 2012
dbSNP: rs1001179
rs1001179 		0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16
CUI: C0033575
Disease: Prostatic Diseases
Prostatic Diseases 		Male Urogenital Diseases 0.010 1.000 1 2012 2012
dbSNP: rs4756146
rs4756146 		0.925 0.080 11 34442192 intron variant T/C snv 0.12
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2012 2012
dbSNP: rs4756146
rs4756146 		0.925 0.080 11 34442192 intron variant T/C snv 0.12
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2012 2012
dbSNP: rs769217
rs769217 		0.742 0.440 11 34461361 synonymous variant C/T snv 0.25 0.22
CUI: C0085576
Disease: Iron-Refractory Iron Deficiency Anemia
Iron-Refractory Iron Deficiency Anemia 		Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs769217
rs769217 		0.742 0.440 11 34461361 synonymous variant C/T snv 0.25 0.22
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 < 0.001 1 2012 2012
dbSNP: rs769217
rs769217 		0.742 0.440 11 34461361 synonymous variant C/T snv 0.25 0.22
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs769217
rs769217 		0.742 0.440 11 34461361 synonymous variant C/T snv 0.25 0.22
CUI: C3841475
Disease: beta^+^ Thalassemia
beta^+^ Thalassemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1001179
rs1001179 		0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle 		Eye Diseases 0.020 0.500 2 2013 2018
dbSNP: rs1001179
rs1001179 		0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16
CUI: C0017605
Disease: Angle Closure Glaucoma
Angle Closure Glaucoma 		Eye Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1001179
rs1001179 		0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16
CUI: C0017606
Disease: Primary angle-closure glaucoma
Primary angle-closure glaucoma 		Eye Diseases 0.010 1.000 1 2013 2013
dbSNP: rs7947841
rs7947841 		11 34470133 intron variant G/A snv 1.0E-01
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1001179
rs1001179 		0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 < 0.001 1 2014 2014
dbSNP: rs1001179
rs1001179 		0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16
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: rs1001179
rs1001179 		0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16
CUI: C0235031
Disease: Neurologic Symptoms
Neurologic Symptoms 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2015 2015