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.
Mucocutaneous Lymph Node Syndrome
CUI: C0026691
Disease: Mucocutaneous Lymph Node Syndrome
195 0.611 0.720 16 3254626 missense variant C/G;T snv 7.1E-02 0.010 1.000 1 2009 2009
Multiple Sclerosis
CUI: C0026769
Disease: Multiple Sclerosis
1022 0.611 0.720 16 3254626 missense variant C/G;T snv 7.1E-02 0.010 1.000 1 2012 2012
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.611 0.720 16 3254626 missense variant C/G;T snv 7.1E-02 0.010 1.000 1 2010 2010
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
Osteoarthritis, Knee
CUI: C0409959
Disease: Osteoarthritis, Knee
150 0.611 0.720 16 3254626 missense variant C/G;T snv 7.1E-02 0.010 1.000 1 2013 2013
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
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
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
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
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
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
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
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
2387 0.611 0.720 16 3254626 missense variant C/G;T snv 7.1E-02 0.010 1.000 1 2005 2005
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
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
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
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