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.
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
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
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
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
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
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
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
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
Asthma
CUI: C0004096
Disease: Asthma
1536 0.611 0.720 16 3254626 missense variant C/G;T snv 7.1E-02 0.010 1.000 1 2007 2007
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
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
Chronic kidney disease stage 5
CUI: C2316810
Disease: Chronic kidney disease stage 5
194 0.611 0.720 16 3254626 missense variant C/G;T snv 7.1E-02 0.010 1.000 1 2005 2005
Chronic Kidney Diseases
CUI: C1561643
Disease: Chronic Kidney Diseases
306 0.611 0.720 16 3254626 missense variant C/G;T snv 7.1E-02 0.010 1.000 1 2005 2005
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
1147 0.611 0.720 16 3254626 missense variant C/G;T snv 7.1E-02 0.010 1.000 1 2005 2005
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
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
Kidney Failure, Chronic
CUI: C0022661
Disease: Kidney Failure, Chronic
425 0.611 0.720 16 3254626 missense variant C/G;T snv 7.1E-02 0.010 1.000 1 2005 2005
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
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
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