rs3810651
|
|
4
|
0.925 |
0.080 |
X |
152652814 |
missense variant
|
A/C;T
|
snv |
|
|
0.010 |
1.000 |
1 |
2011 |
2011 |
rs1569548274
|
|
43
|
0.701 |
0.520 |
X |
154030553 |
splice acceptor variant
|
TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs74315431
|
|
15
|
0.732 |
0.080 |
20 |
58418318 |
missense variant
|
C/T
|
snv |
4.0E-06
|
|
0.010 |
1.000 |
1 |
2016 |
2016 |
rs146170087
|
|
7
|
0.925 |
0.040 |
19 |
29702747 |
missense variant
|
T/C
|
snv |
2.3E-03
|
1.1E-03
|
0.700 |
|
0 |
|
|
rs515726205
|
|
7
|
0.882 |
0.040 |
19 |
29702966 |
missense variant
|
C/T
|
snv |
2.4E-05
|
1.4E-05
|
0.700 |
|
0 |
|
|
rs606231435
|
|
18
|
0.827 |
0.240 |
19 |
41970539 |
missense variant
|
C/T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1052553
|
|
8
|
0.827 |
0.200 |
17 |
45996523 |
synonymous variant
|
A/G
|
snv |
0.14
|
0.15
|
0.010 |
1.000 |
1 |
2012 |
2012 |
rs11868035
|
|
14
|
0.763 |
0.200 |
17 |
17811787 |
splice region variant
|
G/A
|
snv |
0.45
|
0.33
|
0.010 |
1.000 |
1 |
2014 |
2014 |
rs63750756
|
|
23
|
0.716 |
0.200 |
17 |
46010324 |
missense variant
|
T/G
|
snv |
2.6E-05
|
|
0.010 |
1.000 |
1 |
2003 |
2003 |
rs869312713
|
|
6
|
0.882 |
0.320 |
16 |
89280070 |
stop gained
|
C/A
|
snv |
|
|
0.700 |
|
0 |
|
|
rs12593813
|
|
2
|
1.000 |
0.080 |
15 |
67744514 |
intron variant
|
A/G
|
snv |
|
0.53
|
0.010 |
1.000 |
1 |
2015 |
2015 |
rs281865051
|
|
2
|
1.000 |
0.040 |
12 |
40319998 |
missense variant
|
T/C
|
snv |
|
|
0.010 |
1.000 |
1 |
2008 |
2008 |
rs33939927
|
|
24
|
0.708 |
0.120 |
12 |
40310434 |
missense variant
|
C/A;G;T
|
snv |
4.0E-06;
1.2E-05
|
|
0.010 |
1.000 |
1 |
2008 |
2008 |
rs34637584
|
|
78
|
0.583 |
0.480 |
12 |
40340400 |
missense variant
|
G/A
|
snv |
5.3E-04
|
3.6E-04
|
0.010 |
1.000 |
1 |
2007 |
2007 |
rs1421405659
|
|
13
|
0.851 |
0.360 |
12 |
101642529 |
missense variant
|
T/C;G
|
snv |
|
|
0.700 |
|
0 |
|
|
rs564856283
|
|
3
|
|
|
12 |
101642495 |
missense variant
|
G/A;C
|
snv |
3.2E-05
|
|
0.700 |
|
0 |
|
|
rs587777721
|
|
4
|
0.925 |
0.160 |
12 |
51806336 |
missense variant
|
G/A
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1057524157
|
|
19
|
0.776 |
0.200 |
11 |
686962 |
missense variant
|
A/C;T
|
snv |
|
|
0.700 |
1.000 |
2 |
2017 |
2017 |
rs3794087
|
|
6
|
0.851 |
0.120 |
11 |
35308068 |
intron variant
|
G/T
|
snv |
|
0.20
|
0.010 |
1.000 |
1 |
2013 |
2013 |
rs76732092
|
|
1
|
|
|
11 |
18358030 |
missense variant
|
C/A
|
snv |
|
|
0.010 |
1.000 |
1 |
2015 |
2015 |
rs900147
|
|
1
|
|
|
11 |
13272293 |
upstream gene variant
|
G/A
|
snv |
|
0.62
|
0.010 |
1.000 |
1 |
2015 |
2015 |
rs104894158
|
|
5
|
0.851 |
0.080 |
10 |
62813835 |
missense variant
|
A/T
|
snv |
|
|
0.010 |
1.000 |
1 |
2009 |
2009 |
rs397514698
|
|
52
|
0.667 |
0.400 |
9 |
77797577 |
missense variant
|
C/T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs200455852
|
|
6
|
0.851 |
0.200 |
8 |
18064458 |
missense variant
|
T/C;G
|
snv |
5.8E-05
|
|
0.700 |
|
0 |
|
|
rs201893408
|
|
28
|
0.695 |
0.480 |
8 |
93795970 |
missense variant
|
T/A;C
|
snv |
8.0E-06;
1.5E-04
|
|
0.700 |
|
0 |
|
|