DisGeNET - a database of gene-disease associations

Ankylosing spondylitis, C0038013

Variant: rs4986791 ×

Source: ALL

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs4986791

TLR4

0.040

GeneticVariation

BEFREE

The aim of this study was to investigate the clinical characteristics and frequency of TLR4 polymorphisms (Asp299Gly and Thr 399Ile) in a cohort of Brazilian patients with AS.

27692393

2018

dbSNP:

rs4986791

TLR4

0.040

GeneticVariation

BEFREE

The present study might suggest that TLR4 D299G/T399I polymorphisms are not associated with RA/AS susceptibility.

22717291

2012

dbSNP:

rs4986791

TLR4

0.040

GeneticVariation

BEFREE

Toll-like receptor 4 Asp299Gly and Thr399Ile polymorphisms do not contribute to disease susceptibility in either AS or ReA.

16567359

2006

dbSNP:

rs4986791

TLR4

0.040

GeneticVariation

BEFREE

No significant difference between the frequencies of the Asp299Gly genotype or the Thr399Ile genotype between patients with AS and healthy HLA-B27 controls was found.

16837493

2006