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:	C0264408
Disease:	Childhood asthma

Childhood asthma

0.010

1.000

2009

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:	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:	C1704272
Disease:	Benign Prostatic Hyperplasia

Benign Prostatic Hyperplasia

0.010

1.000

2007

dbSNP:

rs1800470

TGFB1

0.515

0.840

41353016

missense variant

G/A;C

snv

0.55; 2.4E-04

CUI:	C0030920
Disease:	Peptic Ulcer

Peptic Ulcer

0.010

1.000

2007

dbSNP:

rs1800470

TGFB1

0.515

0.840

41353016

missense variant

G/A;C

snv

0.55; 2.4E-04

CUI:	C0005695
Disease:	Bladder Neoplasm

Bladder Neoplasm

0.010

1.000

2015

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:	C0151517
Disease:	Complete atrioventricular block

Complete atrioventricular block

0.010

1.000

2017

dbSNP:

rs1800470

TGFB1

0.515

0.840

41353016

missense variant

G/A;C

snv

0.55; 2.4E-04

CUI:	C0948089
Disease:	Acute Coronary Syndrome

Acute Coronary Syndrome

0.010

1.000

2012

dbSNP:

rs1800470

TGFB1

0.515

0.840

41353016

missense variant

G/A;C

snv

0.55; 2.4E-04

CUI:	C0271183
Disease:	Severe myopia

Severe myopia

0.010

1.000

2009

dbSNP:

rs1800470

TGFB1

0.515

0.840

41353016

missense variant

G/A;C

snv

0.55; 2.4E-04

CUI:	C0742343
Disease:	Acute Chest Syndrome

Acute Chest Syndrome

0.010

1.000

2012

dbSNP:

rs1800470

TGFB1

0.515

0.840

41353016

missense variant

G/A;C

snv

0.55; 2.4E-04

CUI:	C0034067
Disease:	Pulmonary Emphysema

Pulmonary Emphysema

0.010

1.000

2010

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:	C0677607
Disease:	Hashimoto Disease

Hashimoto Disease

0.010

1.000

2015

dbSNP:

rs1800470

TGFB1

0.515

0.840

41353016

missense variant

G/A;C

snv

0.55; 2.4E-04

CUI:	C0004096
Disease:	Asthma

Asthma

0.010

1.000

2007

dbSNP:

rs1800470

TGFB1

0.515

0.840

41353016

missense variant

G/A;C

snv

0.55; 2.4E-04

CUI:	C4025886
Disease:	Severe periodontitis

Severe periodontitis

0.010

1.000

2015

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:	C1458155
Disease:	Mammary Neoplasms

Mammary Neoplasms

0.010

1.000

2008

dbSNP:

rs1800470

TGFB1

0.515

0.840

41353016

missense variant

G/A;C

snv

0.55; 2.4E-04

CUI:	C0003873
Disease:	Rheumatoid Arthritis

Rheumatoid Arthritis

0.010

1.000

2012

dbSNP:

rs1800470

TGFB1

0.515

0.840

41353016

missense variant

G/A;C

snv

0.55; 2.4E-04

CUI:	C1956346
Disease:	Coronary Artery Disease

Coronary Artery Disease

0.010

1.000

2016

dbSNP:

rs1800470

TGFB1

0.515

0.840

41353016

missense variant

G/A;C

snv

0.55; 2.4E-04

CUI:	C0263912
Disease:	Rotator cuff syndrome

Rotator cuff syndrome

0.010

1.000

2020

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:	C0031090
Disease:	Periodontal Diseases

Periodontal Diseases

0.010

1.000

2014