rs61752717, MEFV

N. diseases: 72
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 orchitis
CUI: C0268958
Disease: Acute orchitis
1 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.010 1.000 1 2012 2012
Chronic arthritis
CUI: C0263680
Disease: Chronic arthritis
1 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.010 1.000 1 2018 2018
Enthesopathy
CUI: C0242490
Disease: Enthesopathy
1 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.010 1.000 1 2013 2013
Hemicrania
CUI: C0877781
Disease: Hemicrania
1 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.010 1.000 1 2002 2002
incomplete anencephaly, hemicrania
CUI: C0302356
Disease: incomplete anencephaly, hemicrania
1 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.010 1.000 1 2002 2002
Monoarthritis
CUI: C0158026
Disease: Monoarthritis
1 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.010 1.000 1 2001 2001
Erysipelas
CUI: C0014733
Disease: Erysipelas
2 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.020 1.000 2 2008 2015
Sacroiliitis
CUI: C0574960
Disease: Sacroiliitis
2 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.020 1.000 2 2009 2013
Recurrent abdominal pain
CUI: C2585575
Disease: Recurrent abdominal pain
2 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.010 1.000 1 2019 2019
Abnormality of the anterior fontanelle
CUI: C4025875
Disease: Abnormality of the anterior fontanelle
3 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.700 0
Periodic fever
CUI: C0015974
Disease: Periodic fever
5 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.010 1.000 1 2000 2000
Impaired use of nonverbal behaviors
CUI: C4021798
Disease: Impaired use of nonverbal behaviors
5 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.700 0
Deep plantar creases
CUI: C1857953
Disease: Deep plantar creases
6 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.700 0
Amyloid nephropathy
CUI: C0268382
Disease: Amyloid nephropathy
7 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.060 1.000 6 1999 2013
Chest Pain
CUI: C0008031
Disease: Chest Pain
7 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.010 1.000 1 2019 2019
Multiple Sclerosis, Relapsing-Remitting
CUI: C0751967
Disease: Multiple Sclerosis, Relapsing-Remitting
7 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.010 1.000 1 2003 2003
Pleurisy
CUI: C0032231
Disease: Pleurisy
7 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.010 1.000 1 2013 2013
Spondylarthropathies
CUI: C0949691
Disease: Spondylarthropathies
7 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.010 1.000 1 2009 2009
Erythema
CUI: C0041834
Disease: Erythema
8 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.010 1.000 1 2015 2015
Familial Mediterranean Fever, Autosomal Dominant
CUI: C1851347
Disease: Familial Mediterranean Fever, Autosomal Dominant
9 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.700 0
AA amyloidosis
CUI: C3536715
Disease: AA amyloidosis
10 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.030 0.667 3 2004 2017
Reactive systemic amyloidosis
CUI: C0221014
Disease: Reactive systemic amyloidosis
11 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.030 0.667 3 2004 2017
Abdominal Pain
CUI: C0000737
Disease: Abdominal Pain
18 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.010 1.000 1 2010 2010
Profound global developmental delay
CUI: C3553450
Disease: Profound global developmental delay
20 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.700 0
Myalgia
CUI: C0231528
Disease: Myalgia
22 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.020 1.000 2 2012 2015