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: rs1355225244
rs1355225244
MEFV
1.000 0.040 16 3243442 frameshift variant AG/- delins
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.700 1.000 4 1998 2015
dbSNP: rs876660997
rs876660997
MEFV
1.000 0.040 16 3243600 frameshift variant -/A delins 4.1E-06 2.8E-05
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.700 1.000 4 1998 2015
dbSNP: rs104895080
rs104895080
MEFV
0.882 0.160 16 3254380 missense variant C/G;T snv 6.3E-04
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.700 1.000 2 2013 2015
dbSNP: rs104895086
rs104895086
MEFV
1.000 0.040 16 3243520 missense variant T/G snv 4.0E-06
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.700 1.000 2 2013 2015
dbSNP: rs104895087
rs104895087
MEFV
1.000 0.040 16 3243463 missense variant C/T snv
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.700 1.000 2 2013 2015
dbSNP: rs104895088
rs104895088
MEFV
1.000 0.040 16 3243454 missense variant C/T snv 4.4E-05 1.4E-05
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.700 1.000 2 2013 2015
dbSNP: rs104895089
rs104895089
MEFV
1.000 0.040 16 3243449 missense variant T/C;G snv
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.700 1.000 2 2013 2015
dbSNP: rs104895090
rs104895090
MEFV
1.000 0.040 16 3243445 missense variant G/A snv
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.700 1.000 2 2013 2015
dbSNP: rs104895096
rs104895096
MEFV
1.000 0.040 16 3243377 missense variant C/T snv 3.2E-05
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.700 1.000 2 2013 2015
dbSNP: rs104895102
rs104895102
MEFV
1.000 0.040 16 3243327 missense variant G/C snv 8.0E-06 7.0E-06
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.700 1.000 2 2013 2015
dbSNP: rs104895103
rs104895103
MEFV
1.000 0.040 16 3254746 missense variant T/C;G snv 8.1E-06; 8.1E-06
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.700 1.000 2 2013 2015
dbSNP: rs104895104
rs104895104
MEFV
1.000 0.040 16 3247183 missense variant C/T snv 1.2E-05 7.0E-06
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.700 1.000 2 2013 2015
dbSNP: rs104895106
rs104895106
MEFV
1.000 0.040 16 3254580 missense variant T/C;G snv 4.9E-06
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.700 1.000 2 2013 2015
dbSNP: rs104895107
rs104895107
MEFV
1.000 0.040 16 3243550 missense variant G/A snv 1.2E-05 3.5E-05
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.700 1.000 2 2013 2015
dbSNP: rs104895108
rs104895108
MEFV
1.000 0.040 16 3243541 missense variant A/G snv
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.700 1.000 2 2013 2015
dbSNP: rs104895110
rs104895110
MEFV
1.000 0.040 16 3249736 missense variant C/T snv 4.0E-06 2.1E-05
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.700 1.000 2 2013 2015
dbSNP: rs104895114
rs104895114
MEFV
1.000 0.040 16 3243215 missense variant G/A snv
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.700 1.000 2 2013 2015
dbSNP: rs104895115
rs104895115
MEFV
1.000 0.040 16 3243567 missense variant G/A;C snv 4.0E-06; 2.4E-05
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.700 1.000 2 2013 2015
dbSNP: rs104895120
rs104895120
MEFV
1.000 0.040 16 3243506 missense variant C/T snv
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.700 1.000 2 2013 2015
dbSNP: rs104895122
rs104895122
MEFV
1.000 0.040 16 3243424 missense variant T/C snv
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.700 1.000 2 2013 2015
dbSNP: rs104895143
rs104895143
MEFV
1.000 0.040 16 3254538 missense variant G/A snv 1.3E-05
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.700 1.000 2 2013 2015
dbSNP: rs104895145
rs104895145
MEFV
1.000 0.040 16 3243374 missense variant G/A snv
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.700 1.000 2 2013 2015
dbSNP: rs104895147
rs104895147
MEFV
1.000 0.040 16 3243566 missense variant T/A;C snv 4.0E-06
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.700 1.000 2 2013 2015
dbSNP: rs104895152
rs104895152
MEFV
1.000 0.040 16 3243258 missense variant G/A;C snv 4.0E-06; 9.5E-05
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.700 1.000 2 2013 2015
dbSNP: rs1328913013
rs1328913013
MEFV
1.000 0.040 16 3256310 splice donor variant C/A;T snv 4.0E-06 7.0E-06
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.700 1.000 2 2009 2012