rs61752717
|
|
54
|
0.583 |
0.840 |
16 |
3243407 |
missense variant
|
T/A;C
|
snv |
2.8E-04
|
|
0.900 |
0.988 |
63 |
1997 |
2020 |
rs3743930
|
|
43
|
0.611 |
0.720 |
16 |
3254626 |
missense variant
|
C/G;T
|
snv |
7.1E-02
|
|
0.800 |
0.972 |
36 |
1999 |
2020 |
rs28940579
|
|
10
|
0.732 |
0.440 |
16 |
3243310 |
missense variant
|
A/G;T
|
snv |
2.2E-03;
4.0E-06
|
|
0.900 |
1.000 |
11 |
1997 |
2019 |
rs28940580
|
|
16
|
0.742 |
0.560 |
16 |
3243447 |
missense variant
|
C/A;G;T
|
snv |
1.0E-04;
8.0E-06
|
|
0.890 |
1.000 |
9 |
1997 |
2016 |
rs11466023
|
|
6
|
0.827 |
0.320 |
16 |
3249586 |
missense variant
|
G/A;T
|
snv |
1.5E-02;
4.0E-05
|
|
0.860 |
1.000 |
6 |
2008 |
2017 |
rs1045642
|
|
214
|
0.456 |
0.840 |
7 |
87509329 |
synonymous variant
|
A/G;T
|
snv |
0.50
|
|
0.050 |
1.000 |
5 |
2011 |
2014 |
rs11466024
|
|
2
|
0.925 |
0.080 |
16 |
3249468 |
missense variant
|
C/A;T
|
snv |
1.6E-05;
1.3E-02
|
|
0.840 |
1.000 |
4 |
1999 |
2016 |
rs1440063914
|
|
2
|
0.925 |
0.080 |
2 |
8779781 |
missense variant
|
T/C
|
snv |
|
|
0.020 |
1.000 |
2 |
2001 |
2004 |
rs4149584
|
|
24
|
0.683 |
0.440 |
12 |
6333477 |
missense variant
|
C/G;T
|
snv |
4.0E-06;
1.3E-02
|
|
0.020 |
1.000 |
2 |
2008 |
2010 |
rs4986790
|
|
221
|
0.438 |
0.800 |
9 |
117713024 |
missense variant
|
A/G;T
|
snv |
6.1E-02;
4.0E-06
|
|
0.020 |
1.000 |
2 |
2009 |
2011 |
rs61732874
|
|
1
|
0.925 |
0.040 |
16 |
3243257 |
missense variant
|
C/A;T
|
snv |
1.8E-03;
1.2E-05
|
|
0.820 |
1.000 |
2 |
1998 |
2018 |
rs79071878
|
|
7
|
0.827 |
0.240 |
5 |
132680652 |
intron variant
|
ATGAAGCAAGATGGCCTGTTGGGAGGCTACCACAGTAAACCAGGCTAGAGACGATGGTGGCGTGGACAGAATGAAGCAAGATGGCCTGTTGGGAGGCTACCACAGTAAACCAGGCTAGAGATGATGGTGGCGTGGACAGAAT/-
|
del |
|
|
0.020 |
< 0.001 |
2 |
2016 |
2018 |
rs104895076
|
|
1
|
1.000 |
0.040 |
16 |
3254625 |
missense variant
|
T/A;G
|
snv |
7.7E-05;
4.3E-06
|
|
0.710 |
1.000 |
1 |
2017 |
2017 |
rs104895094
|
|
5
|
0.851 |
0.320 |
16 |
3243403 |
missense variant
|
T/A;C
|
snv |
8.0E-06;
5.2E-03
|
|
0.810 |
1.000 |
1 |
1998 |
2016 |
rs104895105
|
|
6
|
0.851 |
0.120 |
16 |
3247171 |
missense variant
|
G/A
|
snv |
|
|
0.010 |
1.000 |
1 |
2004 |
2004 |
rs104895193
|
|
1
|
1.000 |
0.040 |
16 |
3244284 |
missense variant
|
T/A
|
snv |
|
|
0.010 |
1.000 |
1 |
2014 |
2014 |
rs10735810
|
|
26
|
0.662 |
0.640 |
12 |
47879112 |
start lost
|
A/C;G;T
|
snv |
|
|
0.010 |
1.000 |
1 |
2016 |
2016 |
rs1289543302
|
|
12
|
0.763 |
0.440 |
7 |
87536472 |
missense variant
|
C/T
|
snv |
|
|
0.010 |
1.000 |
1 |
2014 |
2014 |
rs1544410
|
|
78
|
0.542 |
0.760 |
12 |
47846052 |
intron variant
|
C/A;G;T
|
snv |
|
|
0.010 |
1.000 |
1 |
2016 |
2016 |
rs190405488
|
|
1
|
1.000 |
0.040 |
16 |
3249609 |
missense variant
|
C/G
|
snv |
2.0E-05
|
|
0.010 |
1.000 |
1 |
2015 |
2015 |
rs2032582
|
|
97
|
0.538 |
0.800 |
7 |
87531302 |
missense variant
|
A/C;T
|
snv |
0.54;
3.8E-02
|
|
0.010 |
1.000 |
1 |
2014 |
2014 |
rs2234663
|
|
14
|
0.716 |
0.480 |
2 |
113130529 |
intron variant
|
ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC/-;ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC;ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC;ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC
|
delins |
|
|
0.010 |
< 0.001 |
1 |
2016 |
2016 |
rs368859219
|
|
1
|
1.000 |
0.040 |
6 |
137881228 |
missense variant
|
G/A;T
|
snv |
7.4E-05;
8.2E-06
|
|
0.010 |
1.000 |
1 |
2020 |
2020 |
rs4804049
|
|
1
|
1.000 |
0.040 |
19 |
47320227 |
synonymous variant
|
T/A;C
|
snv |
4.0E-06;
0.99
|
|
0.010 |
1.000 |
1 |
2010 |
2010 |
rs767006697
|
|
2
|
0.925 |
0.080 |
16 |
3254658 |
frameshift variant
|
C/-
|
delins |
|
|
0.010 |
< 0.001 |
1 |
2001 |
2001 |