DisGeNET - a database of gene-disease associations

Granulomatosis, C0521173

Variant: rs2076530 ×

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:

rs2076530

rs2076530

BTNL2 ; TSBP1-AS1

0.010

GeneticVariation

BEFREE

This observation assessed the putative pathogenic involvement of the rs2076530 variant of BTNL2 in the development of this granulomatosis disease.

2009