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: rs1045642
rs1045642
ABCB1
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.050 1.000 5 2011 2014
dbSNP: rs104895076
rs104895076
MEFV
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 		0.710 1.000 1 2017 2017
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: 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: rs104895081
rs104895081
MEFV
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 		0.810 1.000 3 2010 2015
dbSNP: rs104895083
rs104895083
MEFV
0.925 0.200 16 3247166 missense variant G/C;T snv 4.0E-05; 1.2E-05
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.800 1.000 9 1998 2015
dbSNP: rs104895085
rs104895085
MEFV
1.000 0.040 16 3243529 missense variant C/T snv 3.2E-05 7.0E-05
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.800 1.000 14 2001 2016
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: rs104895091
rs104895091
MEFV
0.925 0.040 16 3243404 inframe deletion CAT/- delins
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.700 1.000 14 1998 2017
dbSNP: rs104895093
rs104895093
MEFV
1.000 0.040 16 3243409 inframe deletion TAT/- delins
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.700 1.000 8 1998 2015
dbSNP: rs104895094
rs104895094
MEFV
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 		0.810 1.000 16 1998 2016
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: rs104895097
rs104895097
MEFV
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 		0.850 1.000 27 1998 2020
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: 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: rs104895105
rs104895105
MEFV
0.851 0.120 16 3247171 missense variant G/A snv
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.010 1.000 1 2004 2004
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