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: rs104895105
rs104895105 		0.851 0.120 16 3247171 missense variant G/A snv
CUI: C0221014
Disease: Reactive systemic amyloidosis
Reactive systemic amyloidosis 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2004 2004
dbSNP: rs104895105
rs104895105 		0.851 0.120 16 3247171 missense variant G/A snv
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.010 1.000 1 2004 2004
dbSNP: rs104895105
rs104895105 		0.851 0.120 16 3247171 missense variant G/A snv
CUI: C0751422
Disease: Hereditary Autoinflammatory Diseases
Hereditary Autoinflammatory Diseases 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2004 2004
dbSNP: rs104895105
rs104895105 		0.851 0.120 16 3247171 missense variant G/A snv
CUI: C3536715
Disease: AA amyloidosis
AA amyloidosis 		Nutritional and Metabolic Diseases 0.010 1.000 1 2004 2004
dbSNP: rs104895105
rs104895105 		0.851 0.120 16 3247171 missense variant G/A snv
CUI: C1290884
Disease: Inflammatory disorder
Inflammatory disorder 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2004 2004
dbSNP: rs104895105
rs104895105 		0.851 0.120 16 3247171 missense variant G/A snv
CUI: C1861502
Disease: COLCHICINE RESISTANCE
COLCHICINE RESISTANCE 		0.010 1.000 1 2004 2004
dbSNP: rs104895193
rs104895193 		1.000 0.040 16 3244284 missense variant T/A snv
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.010 1.000 1 2014 2014
dbSNP: rs1274043842
rs1274043842 		1.000 0.040 16 3248950 missense variant C/T snv 7.0E-06
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.010 1.000 1 2017 2017
dbSNP: rs224204
rs224204 		0.882 0.120 16 3246429 non coding transcript exon variant G/A snv 0.46
CUI: C3890176
Disease: Psoriatic Juvenile Idiopathic Arthritis
Psoriatic Juvenile Idiopathic Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs224204
rs224204 		0.882 0.120 16 3246429 non coding transcript exon variant G/A snv 0.46
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.010 1.000 1 2019 2019
dbSNP: rs224204
rs224204 		0.882 0.120 16 3246429 non coding transcript exon variant G/A snv 0.46
CUI: C0238694
Disease: Peripheral arthritis
Peripheral arthritis 		Musculoskeletal Diseases 0.010 1.000 1 2019 2019
dbSNP: rs224217
rs224217 		0.925 0.040 16 3251757 intron variant G/A snv 0.44
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs224217
rs224217 		0.925 0.040 16 3251757 intron variant G/A snv 0.44
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs767006697
rs767006697 		0.925 0.080 16 3254658 frameshift variant C/- delins
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		Nutritional and Metabolic Diseases 0.010 1.000 1 2001 2001
dbSNP: rs767006697
rs767006697 		0.925 0.080 16 3254658 frameshift variant C/- delins
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.010 < 0.001 1 2001 2001
dbSNP: rs28940579
rs28940579 		0.732 0.440 16 3243310 missense variant A/G;T snv 2.2E-03; 4.0E-06
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.900 1.000 11 1997 2019
dbSNP: rs28940579
rs28940579 		0.732 0.440 16 3243310 missense variant A/G;T snv 2.2E-03; 4.0E-06
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		Nutritional and Metabolic Diseases 0.030 1.000 3 2004 2010
dbSNP: rs28940579
rs28940579 		0.732 0.440 16 3243310 missense variant A/G;T snv 2.2E-03; 4.0E-06
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 0.020 1.000 2 2000 2004
dbSNP: rs28940579
rs28940579 		0.732 0.440 16 3243310 missense variant A/G;T snv 2.2E-03; 4.0E-06
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.020 1.000 2 2010 2017
dbSNP: rs28940579
rs28940579 		0.732 0.440 16 3243310 missense variant A/G;T snv 2.2E-03; 4.0E-06
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 2006 2006
dbSNP: rs28940579
rs28940579 		0.732 0.440 16 3243310 missense variant A/G;T snv 2.2E-03; 4.0E-06
CUI: C0024143
Disease: Lupus Nephritis
Lupus Nephritis 		Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Immune System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs28940579
rs28940579 		0.732 0.440 16 3243310 missense variant A/G;T snv 2.2E-03; 4.0E-06
CUI: C0155626
Disease: Acute myocardial infarction
Acute myocardial infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2006 2006
dbSNP: rs28940579
rs28940579 		0.732 0.440 16 3243310 missense variant A/G;T snv 2.2E-03; 4.0E-06
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder 		0.010 1.000 1 2019 2019
dbSNP: rs28940579
rs28940579 		0.732 0.440 16 3243310 missense variant A/G;T snv 2.2E-03; 4.0E-06
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 0.010 1.000 1 2002 2002
dbSNP: rs28940579
rs28940579 		0.732 0.440 16 3243310 missense variant A/G;T snv 2.2E-03; 4.0E-06
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 2014 2014