DisGeNET - a database of gene-disease associations

Source: ALL

Variant: rs763351020 ×

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF _EXOME

AF _GENOME

Disease

Score _vda

EI _vda

N_.PMIDs

FirstRef.

LastRef.

dbSNP:

rs763351020

SERPINE1

0.633

0.560

101132046

missense variant

C/T

snv

4.0E-06

CUI:	C3495426
Disease:	Homocysteinemia

Homocysteinemia

0.020

1.000

1997

2009

dbSNP:

rs763351020

SERPINE1

0.633

0.560

101132046

missense variant

C/T

snv

4.0E-06

CUI:	C0027051
Disease:	Myocardial Infarction

Myocardial Infarction

0.010

1.000

1999

dbSNP:

rs763351020

SERPINE1

0.633

0.560

101132046

missense variant

C/T

snv

4.0E-06

CUI:	C0019061
Disease:	Hemolytic-Uremic Syndrome

Hemolytic-Uremic Syndrome

0.010

1.000

2001

dbSNP:

rs763351020

SERPINE1

0.633

0.560

101132046

missense variant

C/T

snv

4.0E-06

CUI:	C1861172
Disease:	Venous Thromboembolism

Venous Thromboembolism

0.030

1.000

2003

2012

dbSNP:

rs763351020

SERPINE1

0.633

0.560

101132046

missense variant

C/T

snv

4.0E-06

CUI:	C0032460
Disease:	Polycystic Ovary Syndrome

Polycystic Ovary Syndrome

0.030

0.667

2003

2014

dbSNP:

rs763351020

SERPINE1

0.633

0.560

101132046

missense variant

C/T

snv

4.0E-06

CUI:	C0011884
Disease:	Diabetic Retinopathy

Diabetic Retinopathy

0.010

1.000

2003

dbSNP:

rs763351020

SERPINE1

0.633

0.560

101132046

missense variant

C/T

snv

4.0E-06

CUI:	C0009324
Disease:	Ulcerative Colitis

Ulcerative Colitis

0.010

1.000

2003

dbSNP:

rs763351020

SERPINE1

0.633

0.560

101132046

missense variant

C/T

snv

4.0E-06

CUI:	C0162871
Disease:	Aortic Aneurysm, Abdominal

Aortic Aneurysm, Abdominal

0.010

1.000

2003

dbSNP:

rs763351020

SERPINE1

0.633

0.560

101132046

missense variant

C/T

snv

4.0E-06

CUI:	C0398623
Disease:	Thrombophilia

Thrombophilia

0.030

1.000

2005

2009

dbSNP:

rs763351020

SERPINE1

0.633

0.560

101132046

missense variant

C/T

snv

4.0E-06

CUI:	C0311370
Disease:	Lupus anticoagulant disorder

Lupus anticoagulant disorder

0.020

1.000

2005

2009

dbSNP:

rs763351020

SERPINE1

0.633

0.560

101132046

missense variant

C/T

snv

4.0E-06

CUI:	C0149871
Disease:	Deep Vein Thrombosis

Deep Vein Thrombosis

0.020

1.000

2005

2014

dbSNP:

rs763351020

SERPINE1

0.633

0.560

101132046

missense variant

C/T

snv

4.0E-06

CUI:	C0948008
Disease:	Ischemic stroke

Ischemic stroke

0.060

0.833

2006

2018

dbSNP:

rs763351020

SERPINE1

0.633

0.560

101132046

missense variant

C/T

snv

4.0E-06

CUI:	C0584960
Disease:	Factor V Leiden mutation

Factor V Leiden mutation

0.040

0.750

2006

2015

dbSNP:

rs763351020

SERPINE1

0.633

0.560

101132046

missense variant

C/T

snv

4.0E-06

CUI:	C0039585
Disease:	Androgen-Insensitivity Syndrome

Androgen-Insensitivity Syndrome

0.010

1.000

2006

dbSNP:

rs763351020

SERPINE1

0.633

0.560

101132046

missense variant

C/T

snv

4.0E-06

CUI:	C1956346
Disease:	Coronary Artery Disease

Coronary Artery Disease

0.020

0.500

2007

2017

dbSNP:

rs763351020

SERPINE1

0.633

0.560

101132046

missense variant

C/T

snv

4.0E-06

CUI:	C0598608
Disease:	Hyperhomocysteinemia

Hyperhomocysteinemia

0.020

1.000

2007

2019

dbSNP:

rs763351020

SERPINE1

0.633

0.560

101132046

missense variant

C/T

snv

4.0E-06

CUI:	C0079102
Disease:	Cerebral Thrombosis

Cerebral Thrombosis

0.010

1.000

2007

dbSNP:

rs763351020

SERPINE1

0.633

0.560

101132046

missense variant

C/T

snv

4.0E-06

CUI:	C0795687
Disease:	Cerebral arterial thrombosis

Cerebral arterial thrombosis

0.010

1.000

2007

dbSNP:

rs763351020

SERPINE1

0.633

0.560

101132046

missense variant

C/T

snv

4.0E-06

CUI:	C0151945
Disease:	Thrombosis of cerebral veins

Thrombosis of cerebral veins

0.010

1.000

2007

dbSNP:

rs763351020

SERPINE1

0.633

0.560

101132046

missense variant

C/T

snv

4.0E-06

CUI:	C0600433
Disease:	Activated Protein C Resistance

Activated Protein C Resistance

0.010

1.000

2010

dbSNP:

rs763351020

SERPINE1

0.633

0.560

101132046

missense variant

C/T

snv

4.0E-06

CUI:	C3160845
Disease:	PAI-1 4G/5G polymorphism

PAI-1 4G/5G polymorphism

0.020

< 0.001

2011

2014

dbSNP:

rs763351020

SERPINE1

0.633

0.560

101132046

missense variant

C/T

snv

4.0E-06

CUI:	C0242342
Disease:	Sheehan Syndrome

Sheehan Syndrome

0.010

1.000

2011

dbSNP:

rs763351020

SERPINE1

0.633

0.560

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

2011

dbSNP:

rs763351020

SERPINE1

0.633

0.560

101132046

missense variant

C/T

snv

4.0E-06

CUI:	C0009402
Disease:	Colorectal Carcinoma

Colorectal Carcinoma

0.010

< 0.001

2011

dbSNP:

rs763351020

SERPINE1

0.633

0.560

101132046

missense variant

C/T

snv

4.0E-06

CUI:	C0035328
Disease:	Retinal Vein Occlusion

Retinal Vein Occlusion

0.020

0.500

2013

2015