rs28940580, MEFV

N. diseases: 17
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Familial Mediterranean Fever
CUI: C0031069
Disease: Familial Mediterranean Fever
82 0.742 0.560 16 3243447 missense variant C/A;G;T snv 1.0E-04; 8.0E-06 0.890 1.000 46 1997 2016
Familial Mediterranean Fever, Autosomal Dominant
CUI: C1851347
Disease: Familial Mediterranean Fever, Autosomal Dominant
9 0.742 0.560 16 3243447 missense variant C/A;G;T snv 1.0E-04; 8.0E-06 0.700 0
Arthritis
CUI: C0003864
Disease: Arthritis
69 0.742 0.560 16 3243447 missense variant C/A;G;T snv 1.0E-04; 8.0E-06 0.020 1.000 2 2000 2019
Behcet Syndrome
CUI: C0004943
Disease: Behcet Syndrome
243 0.742 0.560 16 3243447 missense variant C/A;G;T snv 1.0E-04; 8.0E-06 0.020 1.000 2 2013 2015
Abdominal Pain
CUI: C0000737
Disease: Abdominal Pain
18 0.742 0.560 16 3243447 missense variant C/A;G;T snv 1.0E-04; 8.0E-06 0.010 1.000 1 2019 2019
Amyloidosis
CUI: C0002726
Disease: Amyloidosis
93 0.742 0.560 16 3243447 missense variant C/A;G;T snv 1.0E-04; 8.0E-06 0.010 1.000 1 2004 2004
Arthralgia
CUI: C0003862
Disease: Arthralgia
27 0.742 0.560 16 3243447 missense variant C/A;G;T snv 1.0E-04; 8.0E-06 0.010 1.000 1 2019 2019
Brucellosis
CUI: C0006309
Disease: Brucellosis
30 0.742 0.560 16 3243447 missense variant C/A;G;T snv 1.0E-04; 8.0E-06 0.010 1.000 1 2015 2015
Celiac Disease
CUI: C0007570
Disease: Celiac Disease
263 0.742 0.560 16 3243447 missense variant C/A;G;T snv 1.0E-04; 8.0E-06 0.010 1.000 1 2008 2008
Fever
CUI: C0015967
Disease: Fever
66 0.742 0.560 16 3243447 missense variant C/A;G;T snv 1.0E-04; 8.0E-06 0.010 1.000 1 2019 2019
Fibrillary glomerulonephritis
CUI: C0268749
Disease: Fibrillary glomerulonephritis
1 0.742 0.560 16 3243447 missense variant C/A;G;T snv 1.0E-04; 8.0E-06 0.010 1.000 1 2003 2003
Henoch-Schoenlein Purpura
CUI: C0034152
Disease: Henoch-Schoenlein Purpura
59 0.742 0.560 16 3243447 missense variant C/A;G;T snv 1.0E-04; 8.0E-06 0.010 1.000 1 2017 2017
Keratoconus
CUI: C0022578
Disease: Keratoconus
83 0.742 0.560 16 3243447 missense variant C/A;G;T snv 1.0E-04; 8.0E-06 0.010 1.000 1 2016 2016
Lupus Erythematosus, Systemic
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
1172 0.742 0.560 16 3243447 missense variant C/A;G;T snv 1.0E-04; 8.0E-06 0.010 1.000 1 2015 2015
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.742 0.560 16 3243447 missense variant C/A;G;T snv 1.0E-04; 8.0E-06 0.010 1.000 1 2010 2010
Nephrotic Syndrome
CUI: C0027726
Disease: Nephrotic Syndrome
45 0.742 0.560 16 3243447 missense variant C/A;G;T snv 1.0E-04; 8.0E-06 0.010 1.000 1 2003 2003
Renal glomerular disease
CUI: C0268731
Disease: Renal glomerular disease
7 0.742 0.560 16 3243447 missense variant C/A;G;T snv 1.0E-04; 8.0E-06 0.010 1.000 1 2003 2003