SERPINB10, serpin family B member 10, 5273

N. diseases: 7; N. variants: 4
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: rs17072020
rs17072020 		18 63897904 intron variant T/G snv 1.8E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs17072020
rs17072020 		18 63897904 intron variant T/G snv 1.8E-02
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs141012637
rs141012637 		0.851 0.320 18 63901881 stop gained C/A;T snv 7.0E-05
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.020 0.500 2 2009 2015
dbSNP: rs141012637
rs141012637 		0.851 0.320 18 63901881 stop gained C/A;T snv 7.0E-05
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2003 2003
dbSNP: rs141012637
rs141012637 		0.851 0.320 18 63901881 stop gained C/A;T snv 7.0E-05
CUI: C0311370
Disease: Lupus anticoagulant disorder
Lupus anticoagulant disorder 		Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2009 2009
dbSNP: rs141012637
rs141012637 		0.851 0.320 18 63901881 stop gained C/A;T snv 7.0E-05
CUI: C3495426
Disease: Homocysteinemia
Homocysteinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 1997 1997
dbSNP: rs6104
rs6104 		0.807 0.160 18 63903295 missense variant C/G snv 0.29 0.28
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2009 2009
dbSNP: rs6104
rs6104 		0.807 0.160 18 63903295 missense variant C/G snv 0.29 0.28
CUI: C0085278
Disease: Antiphospholipid Syndrome
Antiphospholipid Syndrome 		Immune System Diseases 0.010 1.000 1 2007 2007
dbSNP: rs6104
rs6104 		0.807 0.160 18 63903295 missense variant C/G snv 0.29 0.28
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2009 2009
dbSNP: rs6104
rs6104 		0.807 0.160 18 63903295 missense variant C/G snv 0.29 0.28
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.010 1.000 1 2007 2007
dbSNP: rs6104
rs6104 		0.807 0.160 18 63903295 missense variant C/G snv 0.29 0.28
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2009 2009
dbSNP: rs6104
rs6104 		0.807 0.160 18 63903295 missense variant C/G snv 0.29 0.28
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2009 2009
dbSNP: rs8093048
rs8093048 		0.925 0.080 18 63909374 intron variant C/T snv 4.7E-02
CUI: C0741032
Disease: Refractory angina
Refractory angina 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs8093048
rs8093048 		0.925 0.080 18 63909374 intron variant C/T snv 4.7E-02
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2015 2015