Source: ALL

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: rs1057516210
rs1057516210
MEFV
1.000 0.040 16 3244283 missense variant G/T snv
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.700 1.000 1 2014 2014
dbSNP: rs1274043842
rs1274043842
MEFV
1.000 0.040 16 3248950 missense variant C/T snv 7.0E-06
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.010 1.000 1 2017 2017
dbSNP: rs190405488
rs190405488
MEFV
1.000 0.040 16 3249609 missense variant C/G snv 2.0E-05
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.010 1.000 1 2015 2015
dbSNP: rs747515115
rs747515115
MEFV
1.000 0.040 16 3254779 stop gained G/A;C;T snv 2.4E-05; 4.1E-06; 5.7E-05
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.700 1.000 1 2011 2011
dbSNP: rs75977701
rs75977701
MEFV
1.000 0.040 16 3254158 missense variant C/T snv 4.6E-03 3.2E-03
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.010 1.000 1 2012 2012
dbSNP: rs104895079
rs104895079
MEFV
1.000 0.040 16 3254567 missense variant C/G snv 4.4E-05 3.5E-05
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.800 0
dbSNP: rs104895098
rs104895098
MEFV
1.000 0.040 16 3243423 stop gained G/A;C snv 4.0E-06; 4.0E-06
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.700 0
dbSNP: rs104895154
rs104895154
MEFV
1.000 0.040 16 3243149 missense variant G/T snv 3.2E-05 1.4E-05
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.700 0
dbSNP: rs11466045
rs11466045
MEFV
1.000 0.040 16 3243880 missense variant A/G snv 1.1E-02 1.0E-02
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.800 0
dbSNP: rs876660990
rs876660990
MEFV
1.000 0.040 16 3254632 stop gained G/A;C snv
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.700 0