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.
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
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
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
Lupus Erythematosus, Systemic
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
1172 0.611 0.720 16 3254626 missense variant C/G;T snv 7.1E-02 0.020 1.000 2 2012 2015
Ankylosing spondylitis
CUI: C0038013
Disease: Ankylosing spondylitis
609 0.611 0.720 16 3254626 missense variant C/G;T snv 7.1E-02 0.030 1.000 3 2010 2018
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
Amyloidosis
CUI: C0002726
Disease: Amyloidosis
93 0.611 0.720 16 3254626 missense variant C/G;T snv 7.1E-02 0.040 1.000 4 2000 2005
Behcet Syndrome
CUI: C0004943
Disease: Behcet Syndrome
243 0.611 0.720 16 3254626 missense variant C/G;T snv 7.1E-02 0.050 0.800 5 2000 2015
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