rs3812718
|
|
8
|
0.776 |
0.240 |
2 |
166053034 |
splice region variant
|
C/T
|
snv |
|
0.48
|
0.060 |
1.000 |
6 |
2013 |
2018 |
rs121909674
|
|
8
|
0.790 |
0.080 |
5 |
162153132 |
stop gained
|
C/T
|
snv |
|
|
0.030 |
0.667 |
3 |
2015 |
2017 |
rs28934904
|
|
9
|
0.776 |
0.200 |
X |
154031431 |
missense variant
|
G/A;C;T
|
snv |
|
|
0.030 |
1.000 |
3 |
2006 |
2015 |
rs3773364
|
|
2
|
0.925 |
0.040 |
3 |
12148468 |
intron variant
|
A/G
|
snv |
|
0.15
|
0.030 |
0.667 |
3 |
2010 |
2015 |
rs397507444
|
|
306
|
0.405 |
0.880 |
1 |
11794407 |
missense variant
|
T/G
|
snv |
|
|
0.030 |
1.000 |
3 |
2004 |
2013 |
rs121908225
|
|
12
|
0.790 |
0.120 |
19 |
13365448 |
missense variant
|
G/A
|
snv |
|
|
0.020 |
1.000 |
2 |
2009 |
2010 |
rs121913377
|
|
480
|
0.354 |
0.840 |
7 |
140753335 |
missense variant
|
CA/AT;TT
|
mnv |
|
|
0.020 |
1.000 |
2 |
2017 |
2017 |
rs137853333
|
|
2
|
0.925 |
0.080 |
10 |
77090433 |
missense variant
|
T/C
|
snv |
|
7.0E-06
|
0.020 |
1.000 |
2 |
2009 |
2019 |
rs2292096
|
|
2
|
0.925 |
0.040 |
1 |
200857641 |
3 prime UTR variant
|
A/G
|
snv |
|
0.14
|
0.810 |
1.000 |
2 |
2012 |
2013 |
rs28934906
|
|
46
|
0.716 |
0.320 |
X |
154031355 |
missense variant
|
G/A
|
snv |
|
|
0.020 |
1.000 |
2 |
2010 |
2015 |
rs57095329
|
|
25
|
0.677 |
0.480 |
5 |
160467840 |
intron variant
|
A/G
|
snv |
|
7.8E-02
|
0.020 |
1.000 |
2 |
2015 |
2016 |
rs587777057
|
|
8
|
0.827 |
0.040 |
16 |
56336744 |
missense variant
|
G/A
|
snv |
|
|
0.020 |
1.000 |
2 |
2017 |
2019 |
rs61749721
|
|
17
|
0.732 |
0.200 |
X |
154031065 |
stop gained
|
G/A
|
snv |
|
|
0.020 |
1.000 |
2 |
2010 |
2015 |
rs796052504
|
|
2
|
0.925 |
0.080 |
5 |
162097716 |
stop gained
|
C/T
|
snv |
|
|
0.020 |
1.000 |
2 |
2014 |
2016 |
rs886039903
|
|
6
|
0.807 |
0.200 |
3 |
192335434 |
missense variant
|
C/T
|
snv |
|
|
0.020 |
1.000 |
2 |
2019 |
2019 |
rs10030601
|
|
1
|
1.000 |
0.040 |
4 |
149804060 |
intron variant
|
T/C
|
snv |
|
0.22
|
0.800 |
1.000 |
1 |
2012 |
2012 |
rs10157763
|
|
2
|
1.000 |
0.040 |
1 |
243831739 |
intron variant
|
T/A;C
|
snv |
|
|
0.010 |
1.000 |
1 |
2016 |
2016 |
rs10234411
|
|
1
|
1.000 |
0.040 |
7 |
87535576 |
intron variant
|
T/A;C;G
|
snv |
|
|
0.010 |
1.000 |
1 |
2015 |
2015 |
rs1024611
|
|
63
|
0.568 |
0.800 |
17 |
34252769 |
upstream gene variant
|
A/G
|
snv |
|
0.28
|
0.010 |
1.000 |
1 |
2013 |
2013 |
rs10496964
|
|
2
|
0.925 |
0.040 |
2 |
144602342 |
intergenic variant
|
C/T
|
snv |
|
0.12
|
0.800 |
1.000 |
1 |
2012 |
2012 |
rs1057516064
|
|
3
|
0.925 |
0.120 |
MT |
9237 |
missense variant
|
G/A
|
snv |
|
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs1057516085
|
|
8
|
0.827 |
0.080 |
20 |
63444747 |
missense variant
|
C/T
|
snv |
|
|
0.010 |
1.000 |
1 |
2015 |
2015 |
rs1057518801
|
|
5
|
0.851 |
0.080 |
2 |
165130238 |
missense variant
|
A/G
|
snv |
|
|
0.010 |
1.000 |
1 |
2018 |
2018 |
rs1057520918
|
|
11
|
0.790 |
0.160 |
19 |
13262780 |
missense variant
|
C/T
|
snv |
|
|
0.010 |
1.000 |
1 |
2008 |
2008 |
rs10818488
|
|
8
|
0.776 |
0.360 |
9 |
120942809 |
regulatory region variant
|
A/G
|
snv |
|
0.51
|
0.010 |
1.000 |
1 |
2019 |
2019 |