MEFV, MEFV innate immuity regulator, pyrin, 4210

N. diseases: 298; N. variants: 32
Disease: Systemic amyloidosis ×
Source: BEFREE ×
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: rs28940578
rs28940578 		0.716 0.400 16 3243405 missense variant C/T snv 1.4E-04 6.3E-05
CUI: C0268380
Disease: Systemic amyloidosis
Systemic amyloidosis 		Nutritional and Metabolic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs3743930
rs3743930 		0.611 0.720 16 3254626 missense variant C/G;T snv 7.1E-02
CUI: C0268380
Disease: Systemic amyloidosis
Systemic amyloidosis 		Nutritional and Metabolic Diseases 0.010 1.000 1 2008 2008