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
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
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
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
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
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
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
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
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
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
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
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
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
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