CPB2, carboxypeptidase B2, 1361

N. diseases: 148; N. variants: 11
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: rs1926446
rs1926446 		13 46055860 intron variant C/A;G snv 0.73
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs4942471
rs4942471 		13 46070358 intron variant C/T snv 0.35
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs532540191
rs532540191 		13 46055075 intron variant AAA/-;A;AA;AAAA;AAAAA delins 0.74
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs9526137
rs9526137 		13 46067114 intron variant A/G snv 0.35
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs9526138
rs9526138 		13 46067128 intron variant G/C;T snv 0.35
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs9567617
rs9567617 		13 46076973 intron variant C/G snv 0.34
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs1926447
rs1926447 		0.807 0.440 13 46055809 missense variant A/G snv 0.74 0.77
CUI: C0240912
Disease: Vertical Talus
Vertical Talus 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.030 1.000 3 2014 2018
dbSNP: rs3742264
rs3742264 		0.742 0.400 13 46073959 missense variant C/T snv 0.31 0.35
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.030 0.667 3 2008 2016
dbSNP: rs1926447
rs1926447 		0.807 0.440 13 46055809 missense variant A/G snv 0.74 0.77
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.020 1.000 2 2014 2016
dbSNP: rs3742264
rs3742264 		0.742 0.400 13 46073959 missense variant C/T snv 0.31 0.35
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.020 0.500 2 2018 2019
dbSNP: rs3742264
rs3742264 		0.742 0.400 13 46073959 missense variant C/T snv 0.31 0.35
CUI: C0240912
Disease: Vertical Talus
Vertical Talus 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.020 1.000 2 2014 2018
dbSNP: rs1926447
rs1926447 		0.807 0.440 13 46055809 missense variant A/G snv 0.74 0.77
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1926447
rs1926447 		0.807 0.440 13 46055809 missense variant A/G snv 0.74 0.77
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1926447
rs1926447 		0.807 0.440 13 46055809 missense variant A/G snv 0.74 0.77
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis 		Cardiovascular Diseases 0.010 1.000 1 2006 2006
dbSNP: rs1926447
rs1926447 		0.807 0.440 13 46055809 missense variant A/G snv 0.74 0.77
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs1926447
rs1926447 		0.807 0.440 13 46055809 missense variant A/G snv 0.74 0.77
CUI: C0220641
Disease: Lip and Oral Cavity Carcinoma
Lip and Oral Cavity Carcinoma 		Neoplasms; Stomatognathic Diseases 0.010 1.000 1 2007 2007
dbSNP: rs1926447
rs1926447 		0.807 0.440 13 46055809 missense variant A/G snv 0.74 0.77
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 2015 2015
dbSNP: rs1926447
rs1926447 		0.807 0.440 13 46055809 missense variant A/G snv 0.74 0.77
CUI: C0007820
Disease: Cerebrovascular Disorders
Cerebrovascular Disorders 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1926447
rs1926447 		0.807 0.440 13 46055809 missense variant A/G snv 0.74 0.77
CUI: C0025295
Disease: Meningitis, Pneumococcal
Meningitis, Pneumococcal 		Infections; Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1926447
rs1926447 		0.807 0.440 13 46055809 missense variant A/G snv 0.74 0.77
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth 		Neoplasms; Stomatognathic Diseases 0.010 1.000 1 2007 2007
dbSNP: rs3742264
rs3742264 		0.742 0.400 13 46073959 missense variant C/T snv 0.31 0.35
CUI: C0025295
Disease: Meningitis, Pneumococcal
Meningitis, Pneumococcal 		Infections; Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs3742264
rs3742264 		0.742 0.400 13 46073959 missense variant C/T snv 0.31 0.35
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs3742264
rs3742264 		0.742 0.400 13 46073959 missense variant C/T snv 0.31 0.35
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2005 2005
dbSNP: rs3742264
rs3742264 		0.742 0.400 13 46073959 missense variant C/T snv 0.31 0.35
CUI: C0039240
Disease: Supraventricular tachycardia
Supraventricular tachycardia 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2007 2007
dbSNP: rs3742264
rs3742264 		0.742 0.400 13 46073959 missense variant C/T snv 0.31 0.35
CUI: C0242339
Disease: Dyslipidemias
Dyslipidemias 		Nutritional and Metabolic Diseases 0.010 1.000 1 2014 2014