DisGeNET - a database of gene-disease associations

rs28940580, MEFV

N. diseases: 2

Source: INFERRED ×

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

Disease

N. SNPs_d

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

Familial Mediterranean Fever

CUI:	C0031069
Disease:	Familial Mediterranean Fever

0.742

0.560

16

3243447

missense variant

C/A;G;T

snv

1.0E-04; 8.0E-06

0.890

1.000

1997

2016

Familial Mediterranean Fever, Autosomal Dominant

CUI:	C1851347
Disease:	Familial Mediterranean Fever, Autosomal Dominant

0.742

0.560

16

3243447

missense variant

C/A;G;T

snv

1.0E-04; 8.0E-06

0.700