rs4986790
|
|
0.438 |
0.800 |
9 |
117713024 |
missense variant
|
A/G;T
|
snv
|
6.1E-02;
4.0E-06
|
|
Familial Mediterranean Fever
|
0.020 |
1.000 |
2 |
2009 |
2011 |
rs1045642
|
|
0.456 |
0.840 |
7 |
87509329 |
synonymous variant
|
A/G;T
|
snv
|
0.50
|
|
Familial Mediterranean Fever
|
0.050 |
1.000 |
5 |
2011 |
2014 |
rs4986791
|
|
0.456 |
0.840 |
9 |
117713324 |
missense variant
|
C/T
|
snv
|
5.7E-02
|
4.9E-02
|
Familial Mediterranean Fever
|
0.020 |
1.000 |
2 |
2009 |
2011 |
rs662
|
|
0.485 |
0.840 |
7 |
95308134 |
missense variant
|
T/C
|
snv
|
0.38
|
0.42
|
Familial Mediterranean Fever
|
0.010 |
1.000 |
1 |
2014 |
2014 |
rs5743708
|
|
0.525 |
0.800 |
4 |
153705165 |
missense variant
|
G/A
|
snv
|
1.7E-02
|
1.8E-02
|
Familial Mediterranean Fever
|
0.040 |
1.000 |
4 |
2006 |
2011 |
rs2032582
|
|
0.538 |
0.800 |
7 |
87531302 |
missense variant
|
A/C;T
|
snv
|
0.54;
3.8E-02
|
|
Familial Mediterranean Fever
|
0.010 |
1.000 |
1 |
2014 |
2014 |
rs1544410
|
|
0.542 |
0.760 |
12 |
47846052 |
intron variant
|
C/A;G;T
|
snv
|
|
|
Familial Mediterranean Fever
|
0.010 |
1.000 |
1 |
2016 |
2016 |
rs731236
|
|
0.542 |
0.760 |
12 |
47844974 |
synonymous variant
|
A/G
|
snv
|
0.33
|
0.34
|
Familial Mediterranean Fever
|
0.010 |
1.000 |
1 |
2016 |
2016 |
rs1128503
|
|
0.564 |
0.760 |
7 |
87550285 |
synonymous variant
|
A/G
|
snv
|
0.54
|
0.63
|
Familial Mediterranean Fever
|
0.020 |
1.000 |
2 |
2011 |
2014 |
rs7975232
|
|
0.576 |
0.760 |
12 |
47845054 |
intron variant
|
C/A
|
snv
|
0.51
|
0.55
|
Familial Mediterranean Fever
|
0.010 |
1.000 |
1 |
2016 |
2016 |
rs61752717
|
|
0.583 |
0.840 |
16 |
3243407 |
missense variant
|
T/A;C
|
snv
|
2.8E-04
|
|
Familial Mediterranean Fever
|
0.900 |
0.988 |
63 |
1997 |
2020 |
rs3743930
|
|
0.611 |
0.720 |
16 |
3254626 |
missense variant
|
C/G;T
|
snv
|
7.1E-02
|
|
Familial Mediterranean Fever
|
0.800 |
0.972 |
36 |
1999 |
2020 |
rs763110
|
|
0.653 |
0.560 |
1 |
172658358 |
upstream gene variant
|
C/T
|
snv
|
|
0.49
|
Familial Mediterranean Fever
|
0.010 |
1.000 |
1 |
2017 |
2017 |
rs10735810
|
|
0.662 |
0.640 |
12 |
47879112 |
start lost
|
A/C;G;T
|
snv
|
|
|
Familial Mediterranean Fever
|
0.010 |
1.000 |
1 |
2016 |
2016 |
rs4149584
|
|
0.683 |
0.440 |
12 |
6333477 |
missense variant
|
C/G;T
|
snv
|
4.0E-06;
1.3E-02
|
|
Familial Mediterranean Fever
|
0.020 |
1.000 |
2 |
2008 |
2010 |
rs28940578
|
|
0.716 |
0.400 |
16 |
3243405 |
missense variant
|
C/T
|
snv
|
1.4E-04
|
6.3E-05
|
Familial Mediterranean Fever
|
0.900 |
1.000 |
14 |
1997 |
2017 |
rs2234663
|
|
0.716 |
0.480 |
2 |
113130529 |
intron variant
|
ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC/-;ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC;ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC;ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC
|
delins
|
|
|
Familial Mediterranean Fever
|
0.010 |
< 0.001 |
1 |
2016 |
2016 |
rs224222
|
|
0.724 |
0.440 |
16 |
3254463 |
missense variant
|
C/T
|
snv
|
0.24
|
0.21
|
Familial Mediterranean Fever
|
0.080 |
1.000 |
8 |
2007 |
2019 |
rs995922697
|
|
0.724 |
0.560 |
3 |
49357413 |
missense variant
|
A/G
|
snv
|
4.1E-06
|
|
Familial Mediterranean Fever
|
0.010 |
1.000 |
1 |
2014 |
2014 |
rs28940579
|
|
0.732 |
0.440 |
16 |
3243310 |
missense variant
|
A/G;T
|
snv
|
2.2E-03;
4.0E-06
|
|
Familial Mediterranean Fever
|
0.900 |
1.000 |
11 |
1997 |
2019 |
rs28940580
|
|
0.742 |
0.560 |
16 |
3243447 |
missense variant
|
C/A;G;T
|
snv
|
1.0E-04;
8.0E-06
|
|
Familial Mediterranean Fever
|
0.890 |
1.000 |
9 |
1997 |
2016 |
rs1289543302
|
|
0.763 |
0.440 |
7 |
87536472 |
missense variant
|
C/T
|
snv
|
|
|
Familial Mediterranean Fever
|
0.010 |
1.000 |
1 |
2014 |
2014 |
rs11466023
|
|
0.827 |
0.320 |
16 |
3249586 |
missense variant
|
G/A;T
|
snv
|
1.5E-02;
4.0E-05
|
|
Familial Mediterranean Fever
|
0.860 |
1.000 |
6 |
2008 |
2017 |
rs11466018
|
|
0.827 |
0.200 |
16 |
3254739 |
missense variant
|
A/G
|
snv
|
6.6E-03
|
2.2E-03
|
Familial Mediterranean Fever
|
0.730 |
1.000 |
3 |
2008 |
2013 |
rs79071878
|
|
0.827 |
0.240 |
5 |
132680652 |
intron variant
|
ATGAAGCAAGATGGCCTGTTGGGAGGCTACCACAGTAAACCAGGCTAGAGACGATGGTGGCGTGGACAGAATGAAGCAAGATGGCCTGTTGGGAGGCTACCACAGTAAACCAGGCTAGAGATGATGGTGGCGTGGACAGAAT/-
|
del
|
|
|
Familial Mediterranean Fever
|
0.020 |
< 0.001 |
2 |
2016 |
2018 |