SERPINE1, serpin family E member 1, 5054

N. diseases: 770; N. variants: 23
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: rs2227631
rs2227631 		0.742 0.200 7 101126257 upstream gene variant A/G snv 0.54
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.010 1.000 1 2008 2008
dbSNP: rs2227684
rs2227684 		1.000 0.040 7 101133650 intron variant G/A;T snv 0.41
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.010 1.000 1 2008 2008
dbSNP: rs6090
rs6090 		1.000 0.040 7 101128442 missense variant G/A snv 2.9E-02 3.3E-02
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.010 1.000 1 2008 2008
dbSNP: rs6092
rs6092 		0.807 0.200 7 101128436 missense variant G/A snv 9.5E-02 8.0E-02
CUI: C3160844
Disease: PAI-1 polymorphism
PAI-1 polymorphism 		0.010 1.000 1 2008 2008
dbSNP: rs6092
rs6092 		0.807 0.200 7 101128436 missense variant G/A snv 9.5E-02 8.0E-02
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.010 1.000 1 2008 2008
dbSNP: rs7242
rs7242 		1.000 0.040 7 101138164 3 prime UTR variant T/G snv 0.44
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.010 1.000 1 2008 2008
dbSNP: rs763351020
rs763351020 		0.633 0.560 7 101132046 missense variant C/T snv 4.0E-06
CUI: C0398623
Disease: Thrombophilia
Thrombophilia 		Hemic and Lymphatic Diseases 0.030 1.000 3 2005 2009
dbSNP: rs763351020
rs763351020 		0.633 0.560 7 101132046 missense variant C/T snv 4.0E-06
CUI: C0311370
Disease: Lupus anticoagulant disorder
Lupus anticoagulant disorder 		Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic Diseases 0.020 1.000 2 2005 2009
dbSNP: rs763351020
rs763351020 		0.633 0.560 7 101132046 missense variant C/T snv 4.0E-06
CUI: C3495426
Disease: Homocysteinemia
Homocysteinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.020 1.000 2 1997 2009
dbSNP: rs1799768
rs1799768 		0.807 0.360 7 101126425 upstream gene variant -/A;C ins
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.010 1.000 1 2009 2009
dbSNP: rs6092
rs6092 		0.807 0.200 7 101128436 missense variant G/A snv 9.5E-02 8.0E-02
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: rs6092
rs6092 		0.807 0.200 7 101128436 missense variant G/A snv 9.5E-02 8.0E-02
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2009 2009
dbSNP: rs6092
rs6092 		0.807 0.200 7 101128436 missense variant G/A snv 9.5E-02 8.0E-02
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1402686368
rs1402686368 		1.000 0.040 7 101133793 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C0850666
Disease: Infection caused by Helicobacter pylori
Infection caused by Helicobacter pylori 		Infections 0.010 1.000 1 2010 2010
dbSNP: rs1799889
rs1799889 		0.649 0.600 7 101126430 upstream gene variant A/G snv
CUI: C0855197
Disease: Malignant Testicular Germ Cell Tumor
Malignant Testicular Germ Cell Tumor 		Neoplasms; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1799889
rs1799889 		0.649 0.600 7 101126430 upstream gene variant A/G snv
CUI: C0153594
Disease: Malignant neoplasm of testis
Malignant neoplasm of testis 		Neoplasms; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs763351020
rs763351020 		0.633 0.560 7 101132046 missense variant C/T snv 4.0E-06
CUI: C0600433
Disease: Activated Protein C Resistance
Activated Protein C Resistance 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1554362148
rs1554362148 		1.000 0.040 7 101130504 frameshift variant -/C delins
CUI: C2750067
Disease: Plasminogen Activator Inhibitor-1 Deficiency
Plasminogen Activator Inhibitor-1 Deficiency 		Hemic and Lymphatic Diseases 0.700 1.000 1 2011 2011
dbSNP: rs1799889
rs1799889 		0.649 0.600 7 101126430 upstream gene variant A/G snv
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2011 2011
dbSNP: rs1799889
rs1799889 		0.649 0.600 7 101126430 upstream gene variant A/G snv
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2011 2011
dbSNP: rs763351020
rs763351020 		0.633 0.560 7 101132046 missense variant C/T snv 4.0E-06
CUI: C0242342
Disease: Sheehan Syndrome
Sheehan Syndrome 		Nervous System Diseases; Endocrine System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs763351020
rs763351020 		0.633 0.560 7 101132046 missense variant C/T snv 4.0E-06
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 < 0.001 1 2011 2011
dbSNP: rs763351020
rs763351020 		0.633 0.560 7 101132046 missense variant C/T snv 4.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 < 0.001 1 2011 2011
dbSNP: rs763351020
rs763351020 		0.633 0.560 7 101132046 missense variant C/T snv 4.0E-06
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		Cardiovascular Diseases 0.030 1.000 3 2003 2012
dbSNP: rs1799889
rs1799889 		0.649 0.600 7 101126430 upstream gene variant A/G snv
CUI: C0344315
Disease: Depressed mood
Depressed mood 		Behavior and Behavior Mechanisms 0.010 1.000 1 2012 2012