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:

rs422187

rs422187

F9

1.000

0.040

X

139550700

intron variant

A/C;G

snv

CUI:	C0149871
Disease:	Deep Vein Thrombosis

Deep Vein Thrombosis

0.010

1.000

2009

2009

dbSNP:

rs6048

rs6048

F9

1.000

0.040

X

139551121

missense variant

A/G

snv

0.22

0.23

CUI:	C0149871
Disease:	Deep Vein Thrombosis

Deep Vein Thrombosis

0.010

1.000

2009

2009

dbSNP:

rs777919630

rs777919630

CBS

0.623

0.680

21

43062358

missense variant

G/A;T

snv

8.0E-06; 4.0E-06

CUI:	C0149871
Disease:	Deep Vein Thrombosis

Deep Vein Thrombosis

0.020

1.000

2006

2010

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:

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:

rs780533499

rs780533499

THBD

1.000

0.040

20

23048100

missense variant

C/A;T

snv

4.1E-06

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:

rs4987262

rs4987262

PTGIR

0.882

0.040

19

46623592

missense variant

G/A;C

snv

7.1E-03

CUI:	C0149871
Disease:	Deep Vein Thrombosis

Deep Vein Thrombosis

0.010

1.000

2008

2008

dbSNP:

rs747301897

rs747301897

ERCC2

1.000

0.040

19

45363999

synonymous variant

G/A

snv

7.1E-06

CUI:	C0149871
Disease:	Deep Vein Thrombosis

Deep Vein Thrombosis

0.010

1.000

2011

2011

dbSNP:

rs2000813

rs2000813

LIPG

0.763

0.200

18

49567494

missense variant

C/A;T

snv

4.0E-06; 0.27; 4.0E-06

0.23

CUI:	C0149871
Disease:	Deep Vein Thrombosis

Deep Vein Thrombosis

0.010

< 0.001

2010

2010

dbSNP:

rs2097055

rs2097055

LIPG

0.925

0.040

18

49569117

intron variant

T/C

snv

0.55

CUI:	C0149871
Disease:	Deep Vein Thrombosis

Deep Vein Thrombosis

0.010

1.000

2010

2010

dbSNP:

rs6507931

rs6507931

LIPG

0.882

0.080

18

49586638

intron variant

C/T

snv

0.52

CUI:	C0149871
Disease:	Deep Vein Thrombosis

Deep Vein Thrombosis

0.010

1.000

2010

2010

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:

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:

rs2227721

rs2227721

VTN ; SARM1

0.925

0.080

17

28370430

intron variant

C/A;T

snv

0.12

CUI:	C0149871
Disease:	Deep Vein Thrombosis

Deep Vein Thrombosis

0.010

1.000

2013

2013

dbSNP:

rs281865545

rs281865545

PECAM1

0.695

0.360

17

64377836

missense variant

C/G;T

snv

CUI:	C0149871
Disease:	Deep Vein Thrombosis

Deep Vein Thrombosis

0.010

1.000

2015

2015

dbSNP:

rs573703484

rs573703484

P4HB

1.000

0.040

17

81845659

missense variant

C/T

snv

2.4E-05

1.4E-05

CUI:	C0149871
Disease:	Deep Vein Thrombosis

Deep Vein Thrombosis

0.010

1.000

2015

2015

dbSNP:

rs5918

rs5918

ITGB3

0.683

0.480

17

47283364

missense variant

T/C

snv

0.12

0.13

CUI:	C0149871
Disease:	Deep Vein Thrombosis

Deep Vein Thrombosis

0.010

1.000

2017

2017

dbSNP:

rs2232710

rs2232710

SERPINA10

1.000

0.040

14

94284149

missense variant

T/C

snv

8.1E-03

8.1E-03

CUI:	C0149871
Disease:	Deep Vein Thrombosis

Deep Vein Thrombosis

0.010

1.000

2016

2016

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:

rs1926447

rs1926447

CPB2 ; CPB2-AS1

0.807

0.440

13

46055809

missense variant

A/G

snv

0.74

0.77

CUI:	C0149871
Disease:	Deep Vein Thrombosis

Deep Vein Thrombosis

0.010

1.000

2006

2006

dbSNP:

rs3742264

rs3742264

CPB2 ; CPB2-AS1

0.742

0.400

13

46073959

missense variant

C/T

snv

0.31

0.35

CUI:	C0149871
Disease:	Deep Vein Thrombosis

Deep Vein Thrombosis

0.010

1.000

2006

2006

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:

rs4149584

rs4149584

TNFRSF1A

0.683

0.440

12

6333477

missense variant

C/G;T

snv

4.0E-06; 1.3E-02

CUI:	C0149871
Disease:	Deep Vein Thrombosis

Deep Vein Thrombosis

0.010

1.000

2005

2005

dbSNP:

rs1188383936

rs1188383936

F2

0.524

0.760

11

46725976

missense variant

C/T

snv

8.0E-06

CUI:	C0149871
Disease:	Deep Vein Thrombosis

Deep Vein Thrombosis

0.090

1.000

1999

2015