DisGeNET - a database of gene-disease associations

Source: BEFREE

Disease: Deep Vein Thrombosis ×

Results per page

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:

rs1042579

rs1042579

THBD

0.732

0.240

20

23048087

missense variant

G/A;T

snv

0.19

CUI:	C0149871
Disease:	Deep Vein Thrombosis

Deep Vein Thrombosis

0.010

1.000

2007

2007

dbSNP:

rs1045642

rs1045642

ABCB1

0.456

0.840

7

87509329

synonymous variant

A/G;T

snv

0.50

CUI:	C0149871
Disease:	Deep Vein Thrombosis

Deep Vein Thrombosis

0.010

< 0.001

2019

2019

dbSNP:

rs1131012

rs1131012

PECAM1

0.763

0.280

17

64350416

missense variant

T/C

snv

0.38

CUI:	C0149871
Disease:	Deep Vein Thrombosis

Deep Vein Thrombosis

0.010

1.000

2015

2015

dbSNP:

rs1164821473

rs1164821473

F5

0.925

0.080

1

169546573

missense variant

T/A;C

snv

CUI:	C0149871
Disease:	Deep Vein Thrombosis

Deep Vein Thrombosis

0.010

1.000

2017

2017

dbSNP:

rs118203905

rs118203905

F5

1.000

0.040

1

169555300

missense variant

T/C

snv

6.9E-04

2.0E-04

CUI:	C0149871
Disease:	Deep Vein Thrombosis

Deep Vein Thrombosis

0.010

1.000

2003

2003

dbSNP:

rs1203757587

rs1203757587

MTHFR

1.000

0.040

1

11792279

missense variant

T/C

snv

4.0E-06

CUI:	C0149871
Disease:	Deep Vein Thrombosis

Deep Vein Thrombosis

0.010

1.000

2017

2017

dbSNP:

rs121909613

rs121909613

FGA

0.882

0.160

4

154585712

splice acceptor variant

G/A;C;T

snv

4.8E-05; 4.0E-06

CUI:	C0149871
Disease:	Deep Vein Thrombosis

Deep Vein Thrombosis

0.010

1.000

2010

2010

dbSNP:

rs121918027

rs121918027

PLG

0.827

0.320

6

160738593

missense variant

G/A

snv

1.4E-03

3.5E-04

CUI:	C0149871
Disease:	Deep Vein Thrombosis

Deep Vein Thrombosis

0.010

1.000

2003

2003

dbSNP:

rs121918146

rs121918146

PROC ; LOC105373608

0.827

0.200

2

127428485

missense variant

G/A

snv

1.2E-05

2.1E-05

CUI:	C0149871
Disease:	Deep Vein Thrombosis

Deep Vein Thrombosis

0.010

1.000

2018

2018

dbSNP:

rs1248438558

rs1248438558

F10

0.925

0.120

13

113149020

missense variant

G/A;T

snv

4.0E-06; 4.0E-06

CUI:	C0149871
Disease:	Deep Vein Thrombosis

Deep Vein Thrombosis

0.010

1.000

2015

2015

dbSNP:

rs1255283120

rs1255283120

MTHFR

0.807

0.160

1

11792345

missense variant

G/A

snv

4.0E-06

7.0E-06

CUI:	C0149871
Disease:	Deep Vein Thrombosis

Deep Vein Thrombosis

0.010

1.000

2015

2015

dbSNP:

rs12634349

rs12634349

PROS1

1.000

0.040

3

93882955

intron variant

A/G

snv

0.34

CUI:	C0149871
Disease:	Deep Vein Thrombosis

Deep Vein Thrombosis

0.010

1.000

2019

2019

dbSNP:

rs12953

rs12953

PECAM1

0.763

0.200

17

64356203

missense variant

C/A;T

snv

0.38

CUI:	C0149871
Disease:	Deep Vein Thrombosis

Deep Vein Thrombosis

0.010

1.000

2015

2015

dbSNP:

rs13062355

rs13062355

PROS1

1.000

0.040

3

93969667

intron variant

G/A

snv

0.46

CUI:	C0149871
Disease:	Deep Vein Thrombosis

Deep Vein Thrombosis

0.010

1.000

2019

2019

dbSNP:

rs13146272

rs13146272

CYP4V2

1.000

0.040

4

186199057

missense variant

C/A

snv

0.57

0.61

CUI:	C0149871
Disease:	Deep Vein Thrombosis

Deep Vein Thrombosis

0.010

1.000

2008

2008

dbSNP:

rs13306190

rs13306190

APOB

0.807

0.320

2

21032408

missense variant

G/A;C;T

snv

1.7E-04; 8.0E-06

CUI:	C0149871
Disease:	Deep Vein Thrombosis

Deep Vein Thrombosis

0.010

1.000

2018

2018

dbSNP:

rs1396452003

rs1396452003

PROS1

0.925

0.120

3

93879173

missense variant

T/C

snv

4.0E-06

CUI:	C0149871
Disease:	Deep Vein Thrombosis

Deep Vein Thrombosis

0.010

1.000

2007

2007

dbSNP:

rs147377392

rs147377392

THBD

0.763

0.120

20

23048144

missense variant

A/G

snv

1.0E-04

2.8E-04

CUI:	C0149871
Disease:	Deep Vein Thrombosis

Deep Vein Thrombosis

0.010

1.000

2007

2007

dbSNP:

rs1613662

rs1613662

GP6 ; LOC107985325

0.851

0.120

19

55025227

missense variant

G/A

snv

0.85

0.83

CUI:	C0149871
Disease:	Deep Vein Thrombosis

Deep Vein Thrombosis

0.010

1.000

2008

2008

dbSNP:

rs1799808

rs1799808

PROC

1.000

0.040

2

127418286

upstream gene variant

C/T

snv

0.33

CUI:	C0149871
Disease:	Deep Vein Thrombosis

Deep Vein Thrombosis

0.010

1.000

2019

2019

dbSNP:

rs1799810

rs1799810

PROC

1.000

0.040

2

127418464

5 prime UTR variant

A/T

snv

0.38

0.44

CUI:	C0149871
Disease:	Deep Vein Thrombosis

Deep Vein Thrombosis

0.010

1.000

2019

2019

dbSNP:

rs1800386

rs1800386

VWF

0.851

0.120

12

6018667

missense variant

T/C

snv

2.7E-03

2.3E-03

CUI:	C0149871
Disease:	Deep Vein Thrombosis

Deep Vein Thrombosis

0.010

< 0.001

2011

2011

dbSNP:

rs1801131

rs1801131

MTHFR

0.535

0.840

1

11794419

missense variant

T/G

snv

0.29

0.26

CUI:	C0149871
Disease:	Deep Vein Thrombosis

Deep Vein Thrombosis

0.010

1.000

2019

2019

dbSNP:

rs1801133

rs1801133

MTHFR

0.472

0.880

1

11796321

missense variant

G/A

snv

0.31

0.27

CUI:	C0149871
Disease:	Deep Vein Thrombosis

Deep Vein Thrombosis

0.010

1.000

2019

2019

dbSNP:

rs1805087

rs1805087

MTR

0.496

0.800

1

236885200

missense variant

A/G

snv

0.20

0.21

CUI:	C0149871
Disease:	Deep Vein Thrombosis

Deep Vein Thrombosis

0.010

1.000

2008

2008