DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Tuberculosis, Pulmonary ×

Gene: IFNGR1 ×

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:

rs1327474

rs1327474

IFNGR1

0.925

0.080

6

137219938

upstream gene variant

C/T

snv

0.67

CUI:	C0041327
Disease:	Tuberculosis, Pulmonary

Tuberculosis, Pulmonary

0.010

1.000

2017

2017

dbSNP:

rs1327475

rs1327475

IFNGR1

0.925

0.080

6

137215318

missense variant

G/A

snv

0.13

0.12

CUI:	C0041327
Disease:	Tuberculosis, Pulmonary

Tuberculosis, Pulmonary

0.010

1.000

2017

2017

dbSNP:

rs7749390

rs7749390

IFNGR1

0.882

0.120

6

137219233

5 prime UTR variant

A/G;T

snv

0.43; 4.4E-06

CUI:	C0041327
Disease:	Tuberculosis, Pulmonary

Tuberculosis, Pulmonary

0.010

1.000

2017

2017

dbSNP:

rs9376267

rs9376267

IFNGR1

0.925

0.080

6

137209894

5 prime UTR variant

C/T

snv

0.22

CUI:	C0041327
Disease:	Tuberculosis, Pulmonary

Tuberculosis, Pulmonary

0.010

1.000

2017

2017

dbSNP:

rs9376268

rs9376268

IFNGR1

0.925

0.080

6

137211614

intron variant

G/A

snv

0.20

CUI:	C0041327
Disease:	Tuberculosis, Pulmonary

Tuberculosis, Pulmonary

0.010

1.000

2017

2017