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: 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: rs1265538677
rs1265538677 		0.790 0.200 13 46055808 synonymous variant A/G snv 4.0E-06
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.020 1.000 2 2003 2005
dbSNP: rs1265538677
rs1265538677 		0.790 0.200 13 46055808 synonymous variant A/G snv 4.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2013 2019
dbSNP: rs1265538677
rs1265538677 		0.790 0.200 13 46055808 synonymous variant A/G snv 4.0E-06
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.020 0.500 2 2009 2014
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: rs11574980
rs11574980 		13 46105177 non coding transcript exon variant T/C snv 2.1E-02
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs11574980
rs11574980 		13 46105177 non coding transcript exon variant T/C snv 2.1E-02
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs11574980
rs11574980 		13 46105177 non coding transcript exon variant T/C snv 2.1E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs11574980
rs11574980 		13 46105177 non coding transcript exon variant T/C snv 2.1E-02
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs1265538677
rs1265538677 		0.790 0.200 13 46055808 synonymous variant A/G snv 4.0E-06
CUI: C0162871
Disease: Aortic Aneurysm, Abdominal
Aortic Aneurysm, Abdominal 		Cardiovascular Diseases 0.010 < 0.001 1 2014 2014
dbSNP: rs1265538677
rs1265538677 		0.790 0.200 13 46055808 synonymous variant A/G snv 4.0E-06
CUI: C0039240
Disease: Supraventricular tachycardia
Supraventricular tachycardia 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2007 2007
dbSNP: rs1265538677
rs1265538677 		0.790 0.200 13 46055808 synonymous variant A/G snv 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1265538677
rs1265538677 		0.790 0.200 13 46055808 synonymous variant A/G snv 4.0E-06
CUI: C0242339
Disease: Dyslipidemias
Dyslipidemias 		Nutritional and Metabolic Diseases 0.010 1.000 1 2007 2007
dbSNP: rs1265538677
rs1265538677 		0.790 0.200 13 46055808 synonymous variant A/G snv 4.0E-06
CUI: C0025303
Disease: Meningococcal Infections
Meningococcal Infections 		Infections 0.010 1.000 1 2004 2004
dbSNP: rs1265538677
rs1265538677 		0.790 0.200 13 46055808 synonymous variant A/G snv 4.0E-06
CUI: C0948089
Disease: Acute Coronary Syndrome
Acute Coronary Syndrome 		Cardiovascular Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1265538677
rs1265538677 		0.790 0.200 13 46055808 synonymous variant A/G snv 4.0E-06
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2019 2019
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: 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