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: 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: rs28940578
rs28940578 		0.716 0.400 16 3243405 missense variant C/T snv 1.4E-04 6.3E-05
CUI: C3536715
Disease: AA amyloidosis
AA amyloidosis 		Nutritional and Metabolic Diseases 0.020 1.000 2 2014 2017
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: rs224222
rs224222 		0.724 0.440 16 3254463 missense variant C/T snv 0.24 0.21
CUI: C3536715
Disease: AA amyloidosis
AA amyloidosis 		Nutritional and Metabolic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs11466023
rs11466023 		0.827 0.320 16 3249586 missense variant G/A;T snv 1.5E-02; 4.0E-05
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2017 2017
dbSNP: rs224222
rs224222 		0.724 0.440 16 3254463 missense variant C/T snv 0.24 0.21
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2014 2014
dbSNP: rs28940580
rs28940580 		0.742 0.560 16 3243447 missense variant C/A;G;T snv 1.0E-04; 8.0E-06
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2019 2019
dbSNP: rs3743930
rs3743930 		0.611 0.720 16 3254626 missense variant C/G;T snv 7.1E-02
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		Pathological Conditions, Signs and Symptoms 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: C0000737
Disease: Abdominal Pain
Abdominal Pain 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2010 2010
dbSNP: rs28940578
rs28940578 		0.716 0.400 16 3243405 missense variant C/T snv 1.4E-04 6.3E-05
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: C0155626
Disease: Acute myocardial infarction
Acute myocardial infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2006 2006
dbSNP: rs61752717
rs61752717 		0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04
CUI: C0155626
Disease: Acute myocardial infarction
Acute myocardial infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2006 2006
dbSNP: rs61752717
rs61752717 		0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04
CUI: C0268958
Disease: Acute orchitis
Acute orchitis 		Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs104895128
rs104895128 		0.882 0.160 16 3243593 missense variant C/A;T snv 3.7E-05
CUI: C0085253
Disease: Adult-Onset Still Disease
Adult-Onset Still Disease 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs11466023
rs11466023 		0.827 0.320 16 3249586 missense variant G/A;T snv 1.5E-02; 4.0E-05
CUI: C0085253
Disease: Adult-Onset Still Disease
Adult-Onset Still Disease 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs28940578
rs28940578 		0.716 0.400 16 3243405 missense variant C/T snv 1.4E-04 6.3E-05
CUI: C0085253
Disease: Adult-Onset Still Disease
Adult-Onset Still Disease 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs3743930
rs3743930 		0.611 0.720 16 3254626 missense variant C/G;T snv 7.1E-02
CUI: C0085253
Disease: Adult-Onset Still Disease
Adult-Onset Still Disease 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.010 < 0.001 1 2013 2013
dbSNP: rs61752717
rs61752717 		0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2007 2007
dbSNP: rs61752717
rs61752717 		0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2007 2007
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: 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: rs3743930
rs3743930 		0.611 0.720 16 3254626 missense variant C/G;T snv 7.1E-02
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: 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: rs3743930
rs3743930 		0.611 0.720 16 3254626 missense variant C/G;T snv 7.1E-02
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		Nutritional and Metabolic Diseases 0.040 1.000 4 2000 2005
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