MEFV, MEFV innate immuity regulator, pyrin, 4210

N. diseases: 410; N. variants: 72
Disease: TNF receptor-associated periodic fever syndrome (TRAPS) ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs3743930
rs3743930 		0.611 0.720 16 3254626 missense variant C/G;T snv 7.1E-02
CUI: C1275126
Disease: TNF receptor-associated periodic fever syndrome (TRAPS)
TNF receptor-associated periodic fever syndrome (TRAPS) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2004 2004