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.
Familial Mediterranean Fever
CUI: C0031069
Disease: Familial Mediterranean Fever
82 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.900 0.988 81 1997 2020
Arthritis
CUI: C0003864
Disease: Arthritis
69 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.100 1.000 14 1999 2019
Ankylosing spondylitis
CUI: C0038013
Disease: Ankylosing spondylitis
609 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.750 1.000 6 2010 2019
Henoch-Schoenlein Purpura
CUI: C0034152
Disease: Henoch-Schoenlein Purpura
59 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.030 1.000 3 2011 2019
Arthralgia
CUI: C0003862
Disease: Arthralgia
27 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.020 1.000 2 2008 2019
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
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
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
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
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
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
Chronic Periodontitis
CUI: C0266929
Disease: Chronic Periodontitis
99 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.010 1.000 1 2017 2017
Fever
CUI: C0015967
Disease: Fever
66 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.030 1.000 3 2000 2016
Keratoconus
CUI: C0022578
Disease: Keratoconus
83 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.010 1.000 1 2016 2016
Periodontitis
CUI: C0031099
Disease: Periodontitis
116 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.010 1.000 1 2016 2016
Behcet Syndrome
CUI: C0004943
Disease: Behcet Syndrome
243 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.040 1.000 4 2000 2015
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
22 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.020 1.000 2 2012 2015
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
Headache
CUI: C0018681
Disease: Headache
75 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.010 1.000 1 2015 2015
Leukemia, Myelomonocytic, Chronic
CUI: C0023480
Disease: Leukemia, Myelomonocytic, Chronic
28 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.010 1.000 1 2015 2015
Lupus Erythematosus, Systemic
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
1172 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.010 1.000 1 2015 2015
Lupus Nephritis
CUI: C0024143
Disease: Lupus Nephritis
64 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.010 1.000 1 2015 2015
Febrile Convulsions
CUI: C0009952
Disease: Febrile Convulsions
65 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.010 1.000 1 2014 2014