Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs28940578
rs28940578
MEFV
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 		0.900 1.000 14 1997 2017
dbSNP: rs28940578
rs28940578
MEFV
0.716 0.400 16 3243405 missense variant C/T snv 1.4E-04 6.3E-05
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		0.020 1.000 2 2001 2017
dbSNP: rs28940578
rs28940578
MEFV
0.716 0.400 16 3243405 missense variant C/T snv 1.4E-04 6.3E-05
CUI: C3536715
Disease: AA amyloidosis
AA amyloidosis 		0.020 1.000 2 2014 2017
dbSNP: rs28940578
rs28940578
MEFV
0.716 0.400 16 3243405 missense variant C/T snv 1.4E-04 6.3E-05
CUI: C2939461
Disease: Myeloid neoplasm
Myeloid neoplasm 		0.010 1.000 1 2010 2010
dbSNP: rs28940578
rs28940578
MEFV
0.716 0.400 16 3243405 missense variant C/T snv 1.4E-04 6.3E-05
CUI: C3890737
Disease: Autoinflammatory Syndrome
Autoinflammatory Syndrome 		0.010 1.000 1 2013 2013
dbSNP: rs28940578
rs28940578
MEFV
0.716 0.400 16 3243405 missense variant C/T snv 1.4E-04 6.3E-05
CUI: C0281479
Disease: Primary Systemic Amyloidosis
Primary Systemic Amyloidosis 		0.010 1.000 1 2008 2008
dbSNP: rs28940578
rs28940578
MEFV
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 		0.010 1.000 1 2015 2015
dbSNP: rs28940578
rs28940578
MEFV
0.716 0.400 16 3243405 missense variant C/T snv 1.4E-04 6.3E-05
CUI: C0268380
Disease: Systemic amyloidosis
Systemic amyloidosis 		0.010 1.000 1 2008 2008
dbSNP: rs28940578
rs28940578
MEFV
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 		0.010 1.000 1 2006 2006
dbSNP: rs28940578
rs28940578
MEFV
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 		0.010 1.000 1 2006 2006
dbSNP: rs28940578
rs28940578
MEFV
0.716 0.400 16 3243405 missense variant C/T snv 1.4E-04 6.3E-05
CUI: C0221014
Disease: Reactive systemic amyloidosis
Reactive systemic amyloidosis 		0.010 1.000 1 2017 2017
dbSNP: rs28940578
rs28940578
MEFV
0.716 0.400 16 3243405 missense variant C/T snv 1.4E-04 6.3E-05
CUI: C0014733
Disease: Erysipelas
Erysipelas 		0.010 1.000 1 2008 2008
dbSNP: rs28940578
rs28940578
MEFV
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: rs28940578
rs28940578
MEFV
0.716 0.400 16 3243405 missense variant C/T snv 1.4E-04 6.3E-05
CUI: C0041834
Disease: Erythema
Erythema 		0.010 1.000 1 2008 2008