CUBN, cubilin, 8029

N. diseases: 65; N. variants: 15
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: rs121434430
rs121434430 		0.925 0.240 10 17041160 missense variant G/A snv 3.3E-04 2.7E-04
CUI: C4551825
Disease: Megaloblastic Anemia 1
Megaloblastic Anemia 1 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Hemic and Lymphatic Diseases 0.810 1.000 1 1999 2000
dbSNP: rs1801239
rs1801239 		0.827 0.160 10 16877053 missense variant T/C;G snv 8.9E-02; 8.0E-06
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.020 1.000 2 2016 2019
dbSNP: rs10904831
rs10904831 		1.000 0.040 10 16889345 intron variant C/T snv 7.4E-02
CUI: C1562585
Disease: Leprosy, Multibacillary
Leprosy, Multibacillary 		Infections 0.010 1.000 1 2014 2014
dbSNP: rs11254363
rs11254363 		1.000 0.040 10 17088694 intron variant A/G snv 0.26
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs11254375
rs11254375 		1.000 0.080 10 17117193 intron variant T/G snv 0.30
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 2020 2020
dbSNP: rs12766939
rs12766939 		0.925 0.160 10 17031136 intron variant A/G snv 0.23
CUI: C0742343
Disease: Acute Chest Syndrome
Acute Chest Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2020 2020
dbSNP: rs12766939
rs12766939 		0.925 0.160 10 17031136 intron variant A/G snv 0.23
CUI: C0948089
Disease: Acute Coronary Syndrome
Acute Coronary Syndrome 		Cardiovascular Diseases 0.010 1.000 1 2020 2020
dbSNP: rs1801222
rs1801222 		0.925 0.160 10 17114152 missense variant A/G snv 0.73 0.72
CUI: C0742343
Disease: Acute Chest Syndrome
Acute Chest Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2020 2020
dbSNP: rs1801222
rs1801222 		0.925 0.160 10 17114152 missense variant A/G snv 0.73 0.72
CUI: C0948089
Disease: Acute Coronary Syndrome
Acute Coronary Syndrome 		Cardiovascular Diseases 0.010 1.000 1 2020 2020
dbSNP: rs1801224
rs1801224 		1.000 0.080 10 17105522 missense variant G/C;T snv 8.0E-06; 0.62
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 2020 2020
dbSNP: rs1801239
rs1801239 		0.827 0.160 10 16877053 missense variant T/C;G snv 8.9E-02; 8.0E-06
CUI: C1096293
Disease: Macroangiopathy
Macroangiopathy 		0.010 1.000 1 2019 2019
dbSNP: rs1801239
rs1801239 		0.827 0.160 10 16877053 missense variant T/C;G snv 8.9E-02; 8.0E-06
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1801239
rs1801239 		0.827 0.160 10 16877053 missense variant T/C;G snv 8.9E-02; 8.0E-06
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1801239
rs1801239 		0.827 0.160 10 16877053 missense variant T/C;G snv 8.9E-02; 8.0E-06
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1801239
rs1801239 		0.827 0.160 10 16877053 missense variant T/C;G snv 8.9E-02; 8.0E-06
CUI: C1704436
Disease: Peripheral Arterial Diseases
Peripheral Arterial Diseases 		Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1801239
rs1801239 		0.827 0.160 10 16877053 missense variant T/C;G snv 8.9E-02; 8.0E-06
CUI: C4025272
Disease: Peripheral arterial stenosis
Peripheral arterial stenosis 		0.010 1.000 1 2019 2019
dbSNP: rs1810205
rs1810205 		0.925 0.120 10 16923228 intron variant A/G snv 0.47
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1810205
rs1810205 		0.925 0.120 10 16923228 intron variant A/G snv 0.47
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs3740165
rs3740165 		1.000 0.120 10 16907551 synonymous variant T/C snv 5.4E-02 8.3E-02
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 2010 2010
dbSNP: rs4366393
rs4366393 		1.000 0.080 10 16975493 intron variant A/G snv 0.56
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 2020 2020
dbSNP: rs6602175
rs6602175 		1.000 0.080 10 17100527 intron variant G/T snv 0.61
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 2020 2020
dbSNP: rs7071576
rs7071576 		1.000 0.080 10 16957351 intron variant G/A snv 0.28
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 2020 2020
dbSNP: rs762285755
rs762285755 		0.925 0.160 10 17114074 missense variant T/C snv 7.6E-05 2.8E-05
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 2019 2019
dbSNP: rs762285755
rs762285755 		0.925 0.160 10 17114074 missense variant T/C snv 7.6E-05 2.8E-05
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs7918972
rs7918972 		0.925 0.080 10 16828293 intron variant T/G snv 0.15
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2012 2012