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: rs1442033697
rs1442033697 		7 101135780 frameshift variant A/- del
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.010 1.000 1 2004 2004
dbSNP: rs2227700
rs2227700 		7 101138800 3 prime UTR variant T/C snv 1.2E-02
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs3020623
rs3020623 		7 101129564 intron variant G/A snv 0.32
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs3020623
rs3020623 		7 101129564 intron variant G/A snv 0.32
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2019 2019
dbSNP: rs1799762
rs1799762 		7 101126425 upstream gene variant -/G delins
CUI: C4016325
Disease: TRANSCRIPTION OF PLASMINOGEN ACTIVATOR INHIBITOR, MODULATOR OF
TRANSCRIPTION OF PLASMINOGEN ACTIVATOR INHIBITOR, MODULATOR OF 		0.700 0
dbSNP: rs1194865614
rs1194865614 		1.000 0.040 7 101132065 splice donor variant -/TA delins 4.0E-06
CUI: C2750067
Disease: Plasminogen Activator Inhibitor-1 Deficiency
Plasminogen Activator Inhibitor-1 Deficiency 		Hemic and Lymphatic Diseases 0.700 1.000 1 1992 1992
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: 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: 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: 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: rs1349041080
rs1349041080 		1.000 0.080 7 101137084 splice donor variant G/- delins 4.0E-06
CUI: C3494652
Disease: Severe dementia
Severe dementia 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs1435953393
rs1435953393 		1.000 0.080 7 101137405 missense variant G/A snv 1.6E-05 1.4E-05
CUI: C3494652
Disease: Severe dementia
Severe dementia 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs532966772
rs532966772 		1.000 0.080 7 101132023 synonymous variant C/T snv 4.0E-06
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2006 2006
dbSNP: rs773829498
rs773829498 		0.882 0.080 7 101130457 missense variant A/G snv 4.0E-06
CUI: C0243026
Disease: Sepsis
Sepsis 		Pathological Conditions, Signs and Symptoms; Infections 0.010 1.000 1 2006 2006
dbSNP: rs773829498
rs773829498 		0.882 0.080 7 101130457 missense variant A/G snv 4.0E-06
CUI: C0036690
Disease: Septicemia
Septicemia 		Pathological Conditions, Signs and Symptoms; Infections 0.010 1.000 1 2006 2006
dbSNP: rs773829498
rs773829498 		0.882 0.080 7 101130457 missense variant A/G snv 4.0E-06
CUI: C1719672
Disease: Severe Sepsis
Severe Sepsis 		Pathological Conditions, Signs and Symptoms; Infections 0.010 1.000 1 2006 2006
dbSNP: rs2070682
rs2070682 		1.000 0.120 7 101133986 intron variant T/C snv 0.44
CUI: C0011884
Disease: Diabetic Retinopathy
Diabetic Retinopathy 		Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1411224107
rs1411224107 		0.882 0.160 7 101128439 missense variant C/T snv 7.0E-06
CUI: C4552766
Disease: Miscarriage
Miscarriage 		Female Urogenital Diseases and Pregnancy Complications 0.010 < 0.001 1 2007 2007
dbSNP: rs1411224107
rs1411224107 		0.882 0.160 7 101128439 missense variant C/T snv 7.0E-06
CUI: C0007820
Disease: Cerebrovascular Disorders
Cerebrovascular Disorders 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2000 2000
dbSNP: rs1411224107
rs1411224107 		0.882 0.160 7 101128439 missense variant C/T snv 7.0E-06
CUI: C0003851
Disease: Arteriosclerosis Obliterans
Arteriosclerosis Obliterans 		Cardiovascular Diseases 0.010 1.000 1 2000 2000
dbSNP: rs1411224107
rs1411224107 		0.882 0.160 7 101128439 missense variant C/T snv 7.0E-06
CUI: C0015526
Disease: Factor XII Deficiency
Factor XII Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 < 0.001 1 2007 2007
dbSNP: rs769665945
rs769665945 		0.882 0.160 7 101137079 missense variant C/A;T snv 4.0E-06; 3.6E-05
CUI: C1273976
Disease: First myocardial infarction
First myocardial infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs769665945
rs769665945 		0.882 0.160 7 101137079 missense variant C/A;T snv 4.0E-06; 3.6E-05
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs769665945
rs769665945 		0.882 0.160 7 101137079 missense variant C/A;T snv 4.0E-06; 3.6E-05
CUI: C0011269
Disease: Dementia, Vascular
Dementia, Vascular 		Nervous System Diseases; Mental Disorders; Cardiovascular Diseases 0.010 < 0.001 1 2006 2006