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: rs1194865614
rs1194865614
1.000 0.040 7 101132065 splice donor variant -/TA delins 4.0E-06
Plasminogen Activator Inhibitor-1 Deficiency
Hemic and Lymphatic Diseases 0.700 1.000 1 1992 1992
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: rs1400537035
rs1400537035
0.882 0.200 7 101131931 missense variant C/A;G;T snv
CUI: C4551683
Disease: Adrenal Gland Pheochromocytoma
Adrenal Gland Pheochromocytoma
Neoplasms; Endocrine System Diseases 0.010 1.000 1 2002 2002
dbSNP: rs1400537035
rs1400537035
0.882 0.200 7 101131931 missense variant C/A;G;T snv
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2002 2002
dbSNP: rs1400537035
rs1400537035
0.882 0.200 7 101131931 missense variant C/A;G;T snv
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
Neoplasms 0.010 1.000 1 2002 2002
dbSNP: rs1402686368
rs1402686368
1.000 0.040 7 101133793 missense variant G/A snv 4.0E-06 7.0E-06
Infection caused by Helicobacter pylori
Infections 0.010 1.000 1 2010 2010
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: 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: 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: rs1554362148
rs1554362148
1.000 0.040 7 101130504 frameshift variant -/C delins
Plasminogen Activator Inhibitor-1 Deficiency
Hemic and Lymphatic Diseases 0.700 1.000 1 2011 2011
dbSNP: rs1799762
rs1799762
7 101126425 upstream gene variant -/G delins
TRANSCRIPTION OF PLASMINOGEN ACTIVATOR INHIBITOR, MODULATOR OF
0.700 0
dbSNP: rs1799768
rs1799768
0.807 0.360 7 101126425 upstream gene variant -/A;C ins
CUI: C0004096
Disease: Asthma
Asthma
Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1799768
rs1799768
0.807 0.360 7 101126425 upstream gene variant -/A;C ins
CUI: C0014556
Disease: Epilepsy, Temporal Lobe
Epilepsy, Temporal Lobe
Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1799768
rs1799768
0.807 0.360 7 101126425 upstream gene variant -/A;C ins
CUI: C0036690
Disease: Septicemia
Septicemia
Pathological Conditions, Signs and Symptoms; Infections 0.010 1.000 1 2015 2015
dbSNP: rs1799768
rs1799768
0.807 0.360 7 101126425 upstream gene variant -/A;C ins
CUI: C0243026
Disease: Sepsis
Sepsis
Pathological Conditions, Signs and Symptoms; Infections 0.010 1.000 1 2015 2015
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: rs1799768
rs1799768
0.807 0.360 7 101126425 upstream gene variant -/A;C ins
CUI: C0011884
Disease: Diabetic Retinopathy
Diabetic Retinopathy
Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1799889
rs1799889
0.649 0.600 7 101126430 upstream gene variant A/G snv
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke
Nervous System Diseases; Cardiovascular Diseases 0.020 1.000 2 2014 2016
dbSNP: rs1799889
rs1799889
0.649 0.600 7 101126430 upstream gene variant A/G snv
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis
Cardiovascular Diseases 0.020 1.000 2 2018 2019
dbSNP: rs1799889
rs1799889
0.649 0.600 7 101126430 upstream gene variant A/G snv
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
Cardiovascular Diseases 0.020 1.000 2 2006 2018
dbSNP: rs1799889
rs1799889
0.649 0.600 7 101126430 upstream gene variant A/G snv
CUI: C0007785
Disease: Cerebral Infarction
Cerebral Infarction
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases 0.020 1.000 2 2014 2018
dbSNP: rs1799889
rs1799889
0.649 0.600 7 101126430 upstream gene variant A/G snv
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis
Cardiovascular Diseases 0.010 1.000 1 2018 2018