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: C1861502
Disease: COLCHICINE RESISTANCE
COLCHICINE RESISTANCE 		0.010 1.000 1 2004 2004
dbSNP: rs28940578
rs28940578 		0.716 0.400 16 3243405 missense variant C/T snv 1.4E-04 6.3E-05
CUI: C0015974
Disease: Periodic fever
Periodic fever 		0.010 1.000 1 2014 2014
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: rs61752717
rs61752717 		0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04
CUI: C0015974
Disease: Periodic fever
Periodic fever 		0.010 1.000 1 2000 2000
dbSNP: rs28940578
rs28940578 		0.716 0.400 16 3243405 missense variant C/T snv 1.4E-04 6.3E-05
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: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 2006 2006
dbSNP: rs3743930
rs3743930 		0.611 0.720 16 3254626 missense variant C/G;T snv 7.1E-02
CUI: C0031048
Disease: Pericarditis, Constrictive
Pericarditis, Constrictive 		Cardiovascular Diseases 0.010 1.000 1 2011 2011
dbSNP: rs3743930
rs3743930 		0.611 0.720 16 3254626 missense variant C/G;T snv 7.1E-02
CUI: C0031046
Disease: Pericarditis
Pericarditis 		Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs3743930
rs3743930 		0.611 0.720 16 3254626 missense variant C/G;T snv 7.1E-02
CUI: C0042384
Disease: Vasculitis
Vasculitis 		Cardiovascular 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: C0042384
Disease: Vasculitis
Vasculitis 		Cardiovascular Diseases 0.010 1.000 1 2014 2014
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: rs3743930
rs3743930 		0.611 0.720 16 3254626 missense variant C/G;T snv 7.1E-02
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.800 0.972 36 1999 2020
dbSNP: rs28940578
rs28940578 		0.716 0.400 16 3243405 missense variant C/T snv 1.4E-04 6.3E-05
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.900 1.000 14 1997 2017
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: rs28940580
rs28940580 		0.742 0.560 16 3243447 missense variant C/A;G;T snv 1.0E-04; 8.0E-06
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.890 1.000 9 1997 2016
dbSNP: rs224222
rs224222 		0.724 0.440 16 3254463 missense variant C/T snv 0.24 0.21
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.080 1.000 8 2007 2019
dbSNP: rs11466023
rs11466023 		0.827 0.320 16 3249586 missense variant G/A;T snv 1.5E-02; 4.0E-05
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.860 1.000 6 2008 2017
dbSNP: rs104895097
rs104895097 		0.925 0.040 16 3243205 missense variant C/T snv 2.0E-04 1.1E-04
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.850 1.000 5 1998 2020
dbSNP: rs11466024
rs11466024 		0.925 0.080 16 3249468 missense variant C/A;T snv 1.6E-05; 1.3E-02
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.840 1.000 4 1999 2016
dbSNP: rs11466018
rs11466018 		0.827 0.200 16 3254739 missense variant A/G snv 6.6E-03 2.2E-03
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.730 1.000 3 2008 2013
dbSNP: rs61732874
rs61732874 		0.925 0.040 16 3243257 missense variant C/A;T snv 1.8E-03; 1.2E-05
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.820 1.000 2 1998 2018
dbSNP: rs104895076
rs104895076 		1.000 0.040 16 3254625 missense variant T/A;G snv 7.7E-05; 4.3E-06
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.710 1.000 1 2017 2017
dbSNP: rs104895081
rs104895081 		0.925 0.080 16 3254268 missense variant G/A snv 1.6E-04 1.1E-04
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.810 1.000 1 2010 2015
dbSNP: rs104895094
rs104895094 		0.851 0.320 16 3243403 missense variant T/A;C snv 8.0E-06; 5.2E-03
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.810 1.000 1 1998 2016
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