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.
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
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
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
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
96 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
1843 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.010 1.000 1 2007 2007
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
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
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
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
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
Autistic behavior
CUI: C0856975
Disease: Autistic behavior
78 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.700 0
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
Brachydactyly
CUI: C0221357
Disease: Brachydactyly
43 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.700 0
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
Central hypotonia
CUI: C1842364
Disease: Central hypotonia
25 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.700 0
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
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
194 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
306 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.010 1.000 1 2005 2005
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
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
1147 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.010 1.000 1 2013 2013
Cryptorchidism
CUI: C0010417
Disease: Cryptorchidism
80 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