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.
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
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
Brachydactyly
CUI: C0221357
Disease: Brachydactyly
43 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.700 0
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
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
Dysmorphic facies
CUI: C0424503
Disease: Dysmorphic facies
106 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.700 0
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
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.700 0
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
Large head (disorder)
CUI: C2243051
Disease: Large head (disorder)
116 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.700 0
Leukoaraiosis
CUI: C0948163
Disease: Leukoaraiosis
24 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.700 0
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
Seizures
CUI: C0036572
Disease: Seizures
553 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.700 0
Stereotypic Movement Disorder
CUI: C0038273
Disease: Stereotypic Movement Disorder
26 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.700 0
Synophrys
CUI: C0431447
Disease: Synophrys
23 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.700 0
Pain
CUI: C0030193
Disease: Pain
196 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.010 1.000 1 1999 1999
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
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
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
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
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