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: 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: 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: 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: rs662
rs662
PON1
0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.010 1.000 1 2014 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: rs2032582
rs2032582
ABCB1
0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.010 1.000 1 2014 2014
dbSNP: rs1544410
rs1544410
VDR
0.542 0.760 12 47846052 intron variant C/A;G;T snv
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.010 1.000 1 2016 2016
dbSNP: rs731236
rs731236
VDR
0.542 0.760 12 47844974 synonymous variant A/G snv 0.33 0.34
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.010 1.000 1 2016 2016
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: rs7975232
rs7975232
VDR
0.576 0.760 12 47845054 intron variant C/A snv 0.51 0.55
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.010 1.000 1 2016 2016
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 81 1997 2020
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: rs763110
rs763110
FASLG
0.653 0.560 1 172658358 upstream gene variant C/T snv 0.49
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.010 1.000 1 2017 2017
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
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: 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 36 1997 2017
dbSNP: rs2234663
rs2234663
IL1RN
0.716 0.480 2 113130529 intron variant ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC/-;ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC;ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC;ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC delins
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.010 < 0.001 1 2016 2016
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: rs995922697
rs995922697
GPX1
0.724 0.560 3 49357413 missense variant A/G snv 4.1E-06
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.010 1.000 1 2014 2014
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 33 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 46 1997 2016
dbSNP: rs1289543302
rs1289543302
ABCB1
0.763 0.440 7 87536472 missense variant C/T snv
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.010 1.000 1 2014 2014
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 9 2008 2017
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: 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