rs28940578, MEFV

N. diseases: 16
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 0.716 0.400 16 3243405 missense variant C/T snv 1.4E-04 6.3E-05 0.900 1.000 36 1997 2017
AA amyloidosis
CUI: C3536715
Disease: AA amyloidosis
10 0.716 0.400 16 3243405 missense variant C/T snv 1.4E-04 6.3E-05 0.020 1.000 2 2014 2017
Amyloidosis
CUI: C0002726
Disease: Amyloidosis
93 0.716 0.400 16 3243405 missense variant C/T snv 1.4E-04 6.3E-05 0.020 1.000 2 2001 2017
Acute myocardial infarction
CUI: C0155626
Disease: Acute myocardial infarction
118 0.716 0.400 16 3243405 missense variant C/T snv 1.4E-04 6.3E-05 0.010 1.000 1 2006 2006
Adult-Onset Still Disease
CUI: C0085253
Disease: Adult-Onset Still Disease
5 0.716 0.400 16 3243405 missense variant C/T snv 1.4E-04 6.3E-05 0.010 1.000 1 2015 2015
Autoinflammatory Syndrome
CUI: C3890737
Disease: Autoinflammatory Syndrome
7 0.716 0.400 16 3243405 missense variant C/T snv 1.4E-04 6.3E-05 0.010 1.000 1 2013 2013
Coronary heart disease
CUI: C0010068
Disease: Coronary heart disease
1178 0.716 0.400 16 3243405 missense variant C/T snv 1.4E-04 6.3E-05 0.010 1.000 1 2006 2006
Erysipelas
CUI: C0014733
Disease: Erysipelas
2 0.716 0.400 16 3243405 missense variant C/T snv 1.4E-04 6.3E-05 0.010 1.000 1 2008 2008
Erythema
CUI: C0041834
Disease: Erythema
8 0.716 0.400 16 3243405 missense variant C/T snv 1.4E-04 6.3E-05 0.010 1.000 1 2008 2008
Familial Mediterranean Fever, Autosomal Dominant
9 0.716 0.400 16 3243405 missense variant C/T snv 1.4E-04 6.3E-05 0.700 1.000 1 2005 2005
Myeloid neoplasm
CUI: C2939461
Disease: Myeloid neoplasm
5 0.716 0.400 16 3243405 missense variant C/T snv 1.4E-04 6.3E-05 0.010 1.000 1 2010 2010
Nephrotic Syndrome
CUI: C0027726
Disease: Nephrotic Syndrome
45 0.716 0.400 16 3243405 missense variant C/T snv 1.4E-04 6.3E-05 0.700 1.000 1 2005 2005
Periodic fever
CUI: C0015974
Disease: Periodic fever
5 0.716 0.400 16 3243405 missense variant C/T snv 1.4E-04 6.3E-05 0.010 1.000 1 2014 2014
Primary Systemic Amyloidosis
CUI: C0281479
Disease: Primary Systemic Amyloidosis
10 0.716 0.400 16 3243405 missense variant C/T snv 1.4E-04 6.3E-05 0.010 1.000 1 2008 2008
Reactive systemic amyloidosis
CUI: C0221014
Disease: Reactive systemic amyloidosis
11 0.716 0.400 16 3243405 missense variant C/T snv 1.4E-04 6.3E-05 0.010 1.000 1 2017 2017
Systemic amyloidosis
CUI: C0268380
Disease: Systemic amyloidosis
10 0.716 0.400 16 3243405 missense variant C/T snv 1.4E-04 6.3E-05 0.010 1.000 1 2008 2008