rs3743930, MEFV

N. diseases: 43
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.
Juvenile spondyloarthropathy
CUI: C0409676
Disease: Juvenile spondyloarthropathy
1 0.611 0.720 16 3254626 missense variant C/G;T snv 7.1E-02 0.010 1.000 1 2018 2018
Pericarditis, Constrictive
CUI: C0031048
Disease: Pericarditis, Constrictive
1 0.611 0.720 16 3254626 missense variant C/G;T snv 7.1E-02 0.010 1.000 1 2011 2011
Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis Syndrome
CUI: C4082167
Disease: Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis Syndrome
1 0.611 0.720 16 3254626 missense variant C/G;T snv 7.1E-02 0.010 1.000 1 2016 2016
Rapidly progressive glomerulonephritis
CUI: C0221239
Disease: Rapidly progressive glomerulonephritis
1 0.611 0.720 16 3254626 missense variant C/G;T snv 7.1E-02 0.010 1.000 1 2005 2005
Palindromic rheumatism
CUI: C0085574
Disease: Palindromic rheumatism
2 0.611 0.720 16 3254626 missense variant C/G;T snv 7.1E-02 0.010 1.000 1 2018 2018
Protein-Losing Enteropathies
CUI: C0033680
Disease: Protein-Losing Enteropathies
2 0.611 0.720 16 3254626 missense variant C/G;T snv 7.1E-02 0.010 1.000 1 2011 2011
Adult-Onset Still Disease
CUI: C0085253
Disease: Adult-Onset Still Disease
5 0.611 0.720 16 3254626 missense variant C/G;T snv 7.1E-02 0.010 1 2013 2013
Pericarditis
CUI: C0031046
Disease: Pericarditis
6 0.611 0.720 16 3254626 missense variant C/G;T snv 7.1E-02 0.010 1.000 1 2014 2014
Amyloid nephropathy
CUI: C0268382
Disease: Amyloid nephropathy
7 0.611 0.720 16 3254626 missense variant C/G;T snv 7.1E-02 0.010 1.000 1 2002 2002
Chest Pain
CUI: C0008031
Disease: Chest Pain
7 0.611 0.720 16 3254626 missense variant C/G;T snv 7.1E-02 0.010 1.000 1 2005 2005
Juvenile rheumatoid arthritis
CUI: C3714757
Disease: Juvenile rheumatoid arthritis
10 0.611 0.720 16 3254626 missense variant C/G;T snv 7.1E-02 0.010 1.000 1 2018 2018
Primary Systemic Amyloidosis
CUI: C0281479
Disease: Primary Systemic Amyloidosis
10 0.611 0.720 16 3254626 missense variant C/G;T snv 7.1E-02 0.010 1.000 1 2008 2008
Systemic amyloidosis
CUI: C0268380
Disease: Systemic amyloidosis
10 0.611 0.720 16 3254626 missense variant C/G;T snv 7.1E-02 0.010 1.000 1 2008 2008
Muckle-Wells Syndrome
CUI: C0268390
Disease: Muckle-Wells Syndrome
16 0.611 0.720 16 3254626 missense variant C/G;T snv 7.1E-02 0.010 1.000 1 2004 2004
Abdominal Pain
CUI: C0000737
Disease: Abdominal Pain
18 0.611 0.720 16 3254626 missense variant C/G;T snv 7.1E-02 0.010 1.000 1 2010 2010
Recurrent aphthous ulcer
CUI: C2937365
Disease: Recurrent aphthous ulcer
22 0.611 0.720 16 3254626 missense variant C/G;T snv 7.1E-02 0.010 1.000 1 2013 2013
Vomiting
CUI: C0042963
Disease: Vomiting
23 0.611 0.720 16 3254626 missense variant C/G;T snv 7.1E-02 0.010 1.000 1 2005 2005
Vasculitis
CUI: C0042384
Disease: Vasculitis
24 0.611 0.720 16 3254626 missense variant C/G;T snv 7.1E-02 0.010 1.000 1 2005 2005
Brucellosis
CUI: C0006309
Disease: Brucellosis
30 0.611 0.720 16 3254626 missense variant C/G;T snv 7.1E-02 0.020 1.000 2 2011 2018
TNF receptor-associated periodic fever syndrome (TRAPS)
CUI: C1275126
Disease: TNF receptor-associated periodic fever syndrome (TRAPS)
33 0.611 0.720 16 3254626 missense variant C/G;T snv 7.1E-02 0.010 1.000 1 2004 2004
Nephritis
CUI: C0027697
Disease: Nephritis
40 0.611 0.720 16 3254626 missense variant C/G;T snv 7.1E-02 0.010 1.000 1 2010 2010
Henoch-Schoenlein Purpura
CUI: C0034152
Disease: Henoch-Schoenlein Purpura
59 0.611 0.720 16 3254626 missense variant C/G;T snv 7.1E-02 0.030 1.000 3 2010 2019
Lupus Nephritis
CUI: C0024143
Disease: Lupus Nephritis
64 0.611 0.720 16 3254626 missense variant C/G;T snv 7.1E-02 0.010 1.000 1 2015 2015
Arthritis
CUI: C0003864
Disease: Arthritis
69 0.611 0.720 16 3254626 missense variant C/G;T snv 7.1E-02 0.020 1.000 2 2005 2010
Familial Mediterranean Fever
CUI: C0031069
Disease: Familial Mediterranean Fever
82 0.611 0.720 16 3254626 missense variant C/G;T snv 7.1E-02 0.800 0.972 36 1999 2020