MEFV, MEFV innate immuity regulator, pyrin, 4210

N. diseases: 298; N. variants: 32
Source: BEFREE ×
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs766778566
rs766778566 		16 3243532 missense variant C/T snv 8.0E-06 1.4E-05
CUI: C0015967
Disease: Fever
Fever 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2015 2015
dbSNP: rs61752717
rs61752717 		0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.900 0.988 63 1997 2020
dbSNP: rs61752717
rs61752717 		0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		Nutritional and Metabolic Diseases 0.100 0.931 29 1998 2018
dbSNP: rs61752717
rs61752717 		0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04
CUI: C0003864
Disease: Arthritis
Arthritis 		Musculoskeletal Diseases 0.100 1.000 14 1999 2019
dbSNP: rs61752717
rs61752717 		0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04
CUI: C0268382
Disease: Amyloid nephropathy
Amyloid nephropathy 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.060 1.000 6 1999 2013
dbSNP: rs61752717
rs61752717 		0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.750 1.000 5 2010 2019
dbSNP: rs61752717
rs61752717 		0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases 0.040 1.000 4 2000 2015
dbSNP: rs61752717
rs61752717 		0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04
CUI: C0015967
Disease: Fever
Fever 		Pathological Conditions, Signs and Symptoms 0.030 1.000 3 2000 2016
dbSNP: rs61752717
rs61752717 		0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04
CUI: C0034152
Disease: Henoch-Schoenlein Purpura
Henoch-Schoenlein Purpura 		Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.030 1.000 3 2011 2019
dbSNP: rs61752717
rs61752717 		0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04
CUI: C3536715
Disease: AA amyloidosis
AA amyloidosis 		Nutritional and Metabolic Diseases 0.030 0.667 3 2004 2017
dbSNP: rs61752717
rs61752717 		0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04
CUI: C0221014
Disease: Reactive systemic amyloidosis
Reactive systemic amyloidosis 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.030 0.667 3 2004 2017
dbSNP: rs61752717
rs61752717 		0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04
CUI: C0006309
Disease: Brucellosis
Brucellosis 		Infections 0.030 1.000 3 2015 2018
dbSNP: rs61752717
rs61752717 		0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04
CUI: C0231528
Disease: Myalgia
Myalgia 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.020 1.000 2 2012 2015
dbSNP: rs61752717
rs61752717 		0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04
CUI: C0003862
Disease: Arthralgia
Arthralgia 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases 0.020 1.000 2 2008 2019
dbSNP: rs61752717
rs61752717 		0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04
CUI: C0014733
Disease: Erysipelas
Erysipelas 		Infections; Skin and Connective Tissue Diseases 0.020 1.000 2 2008 2015
dbSNP: rs61752717
rs61752717 		0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04
CUI: C0574960
Disease: Sacroiliitis
Sacroiliitis 		Musculoskeletal Diseases 0.020 1.000 2 2009 2013
dbSNP: rs61752717
rs61752717 		0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.020 1.000 2 2010 2013
dbSNP: rs61752717
rs61752717 		0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2005 2005
dbSNP: rs61752717
rs61752717 		0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs61752717
rs61752717 		0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04
CUI: C1384600
Disease: Systemic onset juvenile chronic arthritis
Systemic onset juvenile chronic arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs61752717
rs61752717 		0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04
CUI: C0031099
Disease: Periodontitis
Periodontitis 		Stomatognathic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs61752717
rs61752717 		0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04
CUI: C0877781
Disease: Hemicrania
Hemicrania 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2002 2002
dbSNP: rs61752717
rs61752717 		0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04
CUI: C2585575
Disease: Recurrent abdominal pain
Recurrent abdominal pain 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2019 2019
dbSNP: rs61752717
rs61752717 		0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04
CUI: C0263680
Disease: Chronic arthritis
Chronic arthritis 		Musculoskeletal Diseases 0.010 1.000 1 2018 2018
dbSNP: rs61752717
rs61752717 		0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04
CUI: C0751967
Disease: Multiple Sclerosis, Relapsing-Remitting
Multiple Sclerosis, Relapsing-Remitting 		Immune System Diseases; Nervous System Diseases 0.010 1.000 1 2003 2003