rs28940579, MEFV

N. diseases: 13
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.
Acute myocardial infarction
CUI: C0155626
Disease: Acute myocardial infarction
118 0.732 0.440 16 3243310 missense variant A/G;T snv 2.2E-03; 4.0E-06 0.010 1.000 1 2006 2006
Amyloid nephropathy
CUI: C0268382
Disease: Amyloid nephropathy
7 0.732 0.440 16 3243310 missense variant A/G;T snv 2.2E-03; 4.0E-06 0.010 1.000 1 2002 2002
Amyloidosis
CUI: C0002726
Disease: Amyloidosis
93 0.732 0.440 16 3243310 missense variant A/G;T snv 2.2E-03; 4.0E-06 0.030 1.000 3 2004 2010
Ankylosing spondylitis
CUI: C0038013
Disease: Ankylosing spondylitis
609 0.732 0.440 16 3243310 missense variant A/G;T snv 2.2E-03; 4.0E-06 0.020 1.000 2 2010 2017
Autoinflammatory disorder
CUI: C3860213
Disease: Autoinflammatory disorder
4 0.732 0.440 16 3243310 missense variant A/G;T snv 2.2E-03; 4.0E-06 0.010 1.000 1 2019 2019
Behcet Syndrome
CUI: C0004943
Disease: Behcet Syndrome
243 0.732 0.440 16 3243310 missense variant A/G;T snv 2.2E-03; 4.0E-06 0.020 1.000 2 2000 2004
Coronary heart disease
CUI: C0010068
Disease: Coronary heart disease
1178 0.732 0.440 16 3243310 missense variant A/G;T snv 2.2E-03; 4.0E-06 0.010 1.000 1 2006 2006
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 0.732 0.440 16 3243310 missense variant A/G;T snv 2.2E-03; 4.0E-06 0.700 1.000 12 1967 2017
Familial Mediterranean Fever
CUI: C0031069
Disease: Familial Mediterranean Fever
82 0.732 0.440 16 3243310 missense variant A/G;T snv 2.2E-03; 4.0E-06 0.900 1.000 33 1997 2019
Familial Mediterranean Fever, Autosomal Dominant
9 0.732 0.440 16 3243310 missense variant A/G;T snv 2.2E-03; 4.0E-06 0.700 0
Lupus Nephritis
CUI: C0024143
Disease: Lupus Nephritis
64 0.732 0.440 16 3243310 missense variant A/G;T snv 2.2E-03; 4.0E-06 0.010 1.000 1 2015 2015
Overgrowth
CUI: C1849265
Disease: Overgrowth
93 0.732 0.440 16 3243310 missense variant A/G;T snv 2.2E-03; 4.0E-06 0.700 1.000 12 1967 2017
Systemic onset juvenile chronic arthritis
53 0.732 0.440 16 3243310 missense variant A/G;T snv 2.2E-03; 4.0E-06 0.010 1.000 1 2014 2014