DisGeNET - a database of gene-disease associations

Source: BEFREE

Variant: rs1800470 ×

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:

rs1800470

TGFB1

0.515

0.840

41353016

missense variant

G/A;C

snv

0.55; 2.4E-04

CUI:	C1565489
Disease:	Renal Insufficiency

Renal Insufficiency

0.010

1.000

2000

dbSNP:

rs1800470

TGFB1

0.515

0.840

41353016

missense variant

G/A;C

snv

0.55; 2.4E-04

CUI:	C2350242
Disease:	Osteoarthritis, Spine

Osteoarthritis, Spine

0.010

1.000

2000

dbSNP:

rs1800470

TGFB1

0.515

0.840

41353016

missense variant

G/A;C

snv

0.55; 2.4E-04

CUI:	C0949690
Disease:	Spondylarthritis

Spondylarthritis

0.010

1.000

2000

dbSNP:

rs1800470

TGFB1

0.515

0.840

41353016

missense variant

G/A;C

snv

0.55; 2.4E-04

CUI:	C1868938
Disease:	End stage cardiac failure

End stage cardiac failure

0.010

1.000

2001

dbSNP:

rs1800470

TGFB1

0.515

0.840

41353016

missense variant

G/A;C

snv

0.55; 2.4E-04

CUI:	C0007193
Disease:	Cardiomyopathy, Dilated

Cardiomyopathy, Dilated

0.010

1.000

2001

dbSNP:

rs1800470

TGFB1

0.515

0.840

41353016

missense variant

G/A;C

snv

0.55; 2.4E-04

CUI:	C0151744
Disease:	Myocardial Ischemia

Myocardial Ischemia

0.010

1.000

2001

dbSNP:

rs1800470

TGFB1

0.515

0.840

41353016

missense variant

G/A;C

snv

0.55; 2.4E-04

CUI:	C0011881
Disease:	Diabetic Nephropathy

Diabetic Nephropathy

0.010

< 0.001

2001

dbSNP:

rs1800470

TGFB1

0.515

0.840

41353016

missense variant

G/A;C

snv

0.55; 2.4E-04

CUI:	C0036421
Disease:	Systemic Scleroderma

Systemic Scleroderma

0.010

1.000

2002

dbSNP:

rs1800470

TGFB1

0.515

0.840

41353016

missense variant

G/A;C

snv

0.55; 2.4E-04

CUI:	C1845050
Disease:	PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS

PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS

0.010

1.000

2002

dbSNP:

rs1800470

TGFB1

0.515

0.840

41353016

missense variant

G/A;C

snv

0.55; 2.4E-04

CUI:	C0028754
Disease:	Obesity

Obesity

0.010

1.000

2003

dbSNP:

rs1800470

TGFB1

0.515

0.840

41353016

missense variant

G/A;C

snv

0.55; 2.4E-04

CUI:	C0398650
Disease:	Immune thrombocytopenic purpura

Immune thrombocytopenic purpura

0.010

< 0.001

2003

dbSNP:

rs1800470

TGFB1

0.515

0.840

41353016

missense variant

G/A;C

snv

0.55; 2.4E-04

CUI:	C0019163
Disease:	Hepatitis B

Hepatitis B

0.010

1.000

2003

dbSNP:

rs1800470

TGFB1

0.515

0.840

41353016

missense variant

G/A;C

snv

0.55; 2.4E-04

CUI:	C0085413
Disease:	Polycystic Kidney, Autosomal Dominant

Polycystic Kidney, Autosomal Dominant

0.010

< 0.001

2003

dbSNP:

rs1800470

TGFB1

0.515

0.840

41353016

missense variant

G/A;C

snv

0.55; 2.4E-04

CUI:	C0206677
Disease:	Adenomatous Polyps

Adenomatous Polyps

0.010

1.000

2004

dbSNP:

rs1800470

TGFB1

0.515

0.840

41353016

missense variant

G/A;C

snv

0.55; 2.4E-04

CUI:	C0026769
Disease:	Multiple Sclerosis

Multiple Sclerosis

0.010

1.000

2004

dbSNP:

rs1800470

TGFB1

0.515

0.840

41353016

missense variant

G/A;C

snv

0.55; 2.4E-04

CUI:	C0333983
Disease:	Hyperplastic Polyp

Hyperplastic Polyp

0.010

1.000

2004

dbSNP:

rs1800470

TGFB1

0.515

0.840

41353016

missense variant

G/A;C

snv

0.55; 2.4E-04

CUI:	C0017661
Disease:	IGA Glomerulonephritis

IGA Glomerulonephritis

0.010

1.000

2005

dbSNP:

rs1800470

TGFB1

0.515

0.840

41353016

missense variant

G/A;C

snv

0.55; 2.4E-04

CUI:	C1623038
Disease:	Cirrhosis

Cirrhosis

0.010

1.000

2005

dbSNP:

rs1800470

TGFB1

0.515

0.840

41353016

missense variant

G/A;C

snv

0.55; 2.4E-04

CUI:	C0342637
Disease:	Hypocalciuric hypercalcemia, familial, type 1

Hypocalciuric hypercalcemia, familial, type 1

0.010

1.000

2005

dbSNP:

rs1800470

TGFB1

0.515

0.840

41353016

missense variant

G/A;C

snv

0.55; 2.4E-04

CUI:	C0023890
Disease:	Liver Cirrhosis

Liver Cirrhosis

0.010

1.000

2005

dbSNP:

rs1800470

TGFB1

0.515

0.840

41353016

missense variant

G/A;C

snv

0.55; 2.4E-04

CUI:	C0027051
Disease:	Myocardial Infarction

Myocardial Infarction

0.020

1.000

2003

2006

dbSNP:

rs1800470

TGFB1

0.515

0.840

41353016

missense variant

G/A;C

snv

0.55; 2.4E-04

CUI:	C0948008
Disease:	Ischemic stroke

Ischemic stroke

0.010

1.000

2006

dbSNP:

rs1800470

TGFB1

0.515

0.840

41353016

missense variant

G/A;C

snv

0.55; 2.4E-04

CUI:	C0011269
Disease:	Dementia, Vascular

Dementia, Vascular

0.010

1.000

2006

dbSNP:

rs1800470

TGFB1

0.515

0.840

41353016

missense variant

G/A;C

snv

0.55; 2.4E-04

CUI:	C0038454
Disease:	Cerebrovascular accident

Cerebrovascular accident

0.010

1.000

2006

dbSNP:

rs1800470

TGFB1

0.515

0.840

41353016

missense variant

G/A;C

snv

0.55; 2.4E-04

CUI:	C0178874
Disease:	Tumor Progression

Tumor Progression

0.010

1.000

2007