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: rs61752717
rs61752717
MEFV
0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.900 0.988 63 1997 2020
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: rs28940579
rs28940579
MEFV
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 		0.900 1.000 11 1997 2019
dbSNP: rs28940580
rs28940580
MEFV
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 		0.890 1.000 9 1997 2016
dbSNP: rs11466023
rs11466023
MEFV
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 		0.860 1.000 6 2008 2017
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 5 1998 2020
dbSNP: rs11466024
rs11466024
MEFV
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 		0.840 1.000 4 1999 2016
dbSNP: rs61732874
rs61732874
MEFV
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 		0.820 1.000 2 1998 2018
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 1 2010 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 1 1998 2016
dbSNP: rs3743930
rs3743930
MEFV
0.611 0.720 16 3254626 missense variant C/G;T snv 7.1E-02
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.800 0.972 36 1999 2020
dbSNP: rs11466018
rs11466018
MEFV
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 		0.730 1.000 3 2008 2013
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: rs224222
rs224222
MEFV
0.724 0.440 16 3254463 missense variant C/T snv 0.24 0.21
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.080 1.000 8 2007 2019
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: rs5743708
rs5743708
TLR2
0.525 0.800 4 153705165 missense variant G/A snv 1.7E-02 1.8E-02
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.040 1.000 4 2006 2011
dbSNP: rs1128503
rs1128503
ABCB1
0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.020 1.000 2 2011 2014
dbSNP: rs1440063914
rs1440063914
KIDINS220
0.925 0.080 2 8779781 missense variant T/C snv
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.020 1.000 2 2001 2004
dbSNP: rs4149584
rs4149584
TNFRSF1A
0.683 0.440 12 6333477 missense variant C/G;T snv 4.0E-06; 1.3E-02
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.020 1.000 2 2008 2010
dbSNP: rs4986790
rs4986790
TLR4
0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.020 1.000 2 2009 2011
dbSNP: rs4986791
rs4986791
TLR4
0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.020 1.000 2 2009 2011
dbSNP: rs79071878
rs79071878
IL4 ; LOC105379176
0.827 0.240 5 132680652 intron variant ATGAAGCAAGATGGCCTGTTGGGAGGCTACCACAGTAAACCAGGCTAGAGACGATGGTGGCGTGGACAGAATGAAGCAAGATGGCCTGTTGGGAGGCTACCACAGTAAACCAGGCTAGAGATGATGGTGGCGTGGACAGAAT/- del
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.020 < 0.001 2 2016 2018
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: rs104895193
rs104895193
MEFV
1.000 0.040 16 3244284 missense variant T/A snv
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.010 1.000 1 2014 2014
dbSNP: rs10735810
rs10735810
VDR
0.662 0.640 12 47879112 start lost A/C;G;T snv
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.010 1.000 1 2016 2016