DisGeNET - a database of gene-disease associations

Behcet Syndrome, C0004943

Variant: rs2488457 ×

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

N.diseases _v

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

dbSNP:

rs2488457

rs2488457

PTPN22 ; AP4B1-AS1

11

0.763

0.480

1

113872746

intron variant

G/A;C

snv

0.010

< 0.001

2012

2012