DisGeNET - a database of gene-disease associations

rs224222, MEFV

N. diseases: 15

Disease: Reactive systemic amyloidosis ×

Source: BEFREE ×

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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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Reactive systemic amyloidosis

CUI:	C0221014
Disease:	Reactive systemic amyloidosis

0.010

GeneticVariation

BEFREE

R202Q may be important in patients with FMF-associated AA amyloidosis.

2016