rs61752717, MEFV

N. diseases: 54
Source: BEFREE ×
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
41 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.900 0.988 63 1997 2020
Ankylosing spondylitis
CUI: C0038013
Disease: Ankylosing spondylitis
273 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.750 1.000 5 2010 2019
Amyloidosis
CUI: C0002726
Disease: Amyloidosis
93 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.100 0.931 29 1998 2018
Arthritis
CUI: C0003864
Disease: Arthritis
66 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.100 1.000 14 1999 2019
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
Behcet Syndrome
CUI: C0004943
Disease: Behcet Syndrome
202 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.040 1.000 4 2000 2015
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
Brucellosis
CUI: C0006309
Disease: Brucellosis
30 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.030 1.000 3 2015 2018
Fever
CUI: C0015967
Disease: Fever
56 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.030 1.000 3 2000 2016
Henoch-Schoenlein Purpura
CUI: C0034152
Disease: Henoch-Schoenlein Purpura
58 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.030 1.000 3 2011 2019
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
Arthralgia
CUI: C0003862
Disease: Arthralgia
16 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.020 1.000 2 2008 2019
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
Myalgia
CUI: C0231528
Disease: Myalgia
14 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.020 1.000 2 2012 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
Ulcerative Colitis
CUI: C0009324
Disease: Ulcerative Colitis
392 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.020 1.000 2 2010 2013
Abdominal Pain
CUI: C0000737
Disease: Abdominal Pain
7 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.010 1.000 1 2010 2010
Acute myocardial infarction
CUI: C0155626
Disease: Acute myocardial infarction
118 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.010 1.000 1 2006 2006
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
Alzheimer Disease, Early Onset
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
94 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.010 1.000 1 2007 2007
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
968 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.010 1.000 1 2007 2007
Chest Pain
CUI: C0008031
Disease: Chest Pain
2 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.010 1.000 1 2019 2019
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
Chronic kidney disease stage 5
CUI: C2316810
Disease: Chronic kidney disease stage 5
188 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.010 1.000 1 2005 2005
Chronic Kidney Diseases
CUI: C1561643
Disease: Chronic Kidney Diseases
155 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.010 1.000 1 2005 2005