rs1045642
|
|
214
|
0.456 |
0.840 |
7 |
87509329 |
synonymous variant
|
A/G;T
|
snv |
0.50
|
|
0.050 |
1.000 |
5 |
2011 |
2014 |
rs1128503
|
|
64
|
0.564 |
0.760 |
7 |
87550285 |
synonymous variant
|
A/G
|
snv |
0.54
|
0.63
|
0.020 |
1.000 |
2 |
2011 |
2014 |
rs1289543302
|
|
12
|
0.763 |
0.440 |
7 |
87536472 |
missense variant
|
C/T
|
snv |
|
|
0.010 |
1.000 |
1 |
2014 |
2014 |
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 |
rs141829974
|
|
1
|
1.000 |
0.040 |
9 |
121037923 |
synonymous variant
|
G/A
|
snv |
2.6E-04
|
8.0E-04
|
0.010 |
1.000 |
1 |
2010 |
2010 |
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 |
rs763110
|
|
30
|
0.653 |
0.560 |
1 |
172658358 |
upstream gene variant
|
C/T
|
snv |
|
0.49
|
0.010 |
1.000 |
1 |
2017 |
2017 |
rs995922697
|
|
15
|
0.724 |
0.560 |
3 |
49357413 |
missense variant
|
A/G
|
snv |
4.1E-06
|
|
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 |
rs79071878
|
|
7
|
0.827 |
0.240 |
5 |
132680652 |
intron variant
|
ATGAAGCAAGATGGCCTGTTGGGAGGCTACCACAGTAAACCAGGCTAGAGACGATGGTGGCGTGGACAGAATGAAGCAAGATGGCCTGTTGGGAGGCTACCACAGTAAACCAGGCTAGAGATGATGGTGGCGTGGACAGAAT/-
|
del |
|
|
0.020 |
< 0.001 |
2 |
2016 |
2018 |
rs1440063914
|
|
2
|
0.925 |
0.080 |
2 |
8779781 |
missense variant
|
T/C
|
snv |
|
|
0.020 |
1.000 |
2 |
2001 |
2004 |
rs61752717
|
|
72
|
0.583 |
0.840 |
16 |
3243407 |
missense variant
|
T/A;C
|
snv |
2.8E-04
|
|
0.900 |
0.988 |
81 |
1997 |
2020 |
rs28940580
|
|
17
|
0.742 |
0.560 |
16 |
3243447 |
missense variant
|
C/A;G;T
|
snv |
1.0E-04;
8.0E-06
|
|
0.890 |
1.000 |
46 |
1997 |
2016 |
rs28940578
|
|
16
|
0.716 |
0.400 |
16 |
3243405 |
missense variant
|
C/T
|
snv |
1.4E-04
|
6.3E-05
|
0.900 |
1.000 |
36 |
1997 |
2017 |
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
|
|
13
|
0.732 |
0.440 |
16 |
3243310 |
missense variant
|
A/G;T
|
snv |
2.2E-03;
4.0E-06
|
|
0.900 |
1.000 |
33 |
1997 |
2019 |
rs61732874
|
|
2
|
0.925 |
0.040 |
16 |
3243257 |
missense variant
|
C/A;T
|
snv |
1.8E-03;
1.2E-05
|
|
0.820 |
1.000 |
28 |
1998 |
2018 |
rs104895097
|
|
2
|
0.925 |
0.040 |
16 |
3243205 |
missense variant
|
C/T
|
snv |
2.0E-04
|
1.1E-04
|
0.850 |
1.000 |
27 |
1998 |
2020 |
rs104895094
|
|
5
|
0.851 |
0.320 |
16 |
3243403 |
missense variant
|
T/A;C
|
snv |
8.0E-06;
5.2E-03
|
|
0.810 |
1.000 |
16 |
1998 |
2016 |
rs104895085
|
|
1
|
1.000 |
0.040 |
16 |
3243529 |
missense variant
|
C/T
|
snv |
3.2E-05
|
7.0E-05
|
0.800 |
1.000 |
14 |
2001 |
2016 |
rs104895091
|
|
2
|
0.925 |
0.040 |
16 |
3243404 |
inframe deletion
|
CAT/-
|
delins |
|
|
0.700 |
1.000 |
14 |
1998 |
2017 |
rs780770024
|
|
1
|
1.000 |
0.040 |
16 |
3243872 |
stop gained
|
G/A
|
snv |
4.0E-06
|
7.0E-06
|
0.700 |
1.000 |
10 |
1997 |
2014 |
rs104895083
|
|
2
|
0.925 |
0.200 |
16 |
3247166 |
missense variant
|
G/C;T
|
snv |
4.0E-05;
1.2E-05
|
|
0.800 |
1.000 |
9 |
1998 |
2015 |
rs11466023
|
|
6
|
0.827 |
0.320 |
16 |
3249586 |
missense variant
|
G/A;T
|
snv |
1.5E-02;
4.0E-05
|
|
0.860 |
1.000 |
9 |
2008 |
2017 |
rs104895093
|
|
1
|
1.000 |
0.040 |
16 |
3243409 |
inframe deletion
|
TAT/-
|
delins |
|
|
0.700 |
1.000 |
8 |
1998 |
2015 |