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 arthritis
CUI: C3495559
Disease: Juvenile arthritis
128 0.611 0.720 16 3254626 missense variant C/G;T snv 7.1E-02 0.010 1.000 1 2018 2018
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
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
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
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
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
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
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
Degenerative polyarthritis
CUI: C0029408
Disease: Degenerative polyarthritis
247 0.611 0.720 16 3254626 missense variant C/G;T snv 7.1E-02 0.010 1.000 1 2013 2013
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
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
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
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
6892 0.611 0.720 16 3254626 missense variant C/G;T snv 7.1E-02 0.010 1.000 1 2012 2012
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
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
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
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
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
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
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
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
Celiac Disease
CUI: C0007570
Disease: Celiac Disease
263 0.611 0.720 16 3254626 missense variant C/G;T snv 7.1E-02 0.010 1.000 1 2008 2008
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