rs1045642
|
|
214
|
0.456 |
0.840 |
7 |
87509329 |
synonymous variant
|
A/G;T
|
snv |
0.50
|
|
0.010 |
1.000 |
1 |
2006 |
2006 |
rs104893878
|
|
21
|
0.732 |
0.160 |
4 |
89835580 |
missense variant
|
C/G
|
snv |
|
|
0.020 |
1.000 |
2 |
2003 |
2004 |
rs104894158
|
|
5
|
0.851 |
0.080 |
10 |
62813835 |
missense variant
|
A/T
|
snv |
|
|
0.010 |
1.000 |
1 |
2009 |
2009 |
rs1052553
|
|
8
|
0.827 |
0.200 |
17 |
45996523 |
synonymous variant
|
A/G
|
snv |
0.14
|
0.15
|
0.010 |
1.000 |
1 |
2012 |
2012 |
rs1057518839
|
|
4
|
1.000 |
|
1 |
161305924 |
missense variant
|
A/C
|
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 |
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 |
rs12593813
|
|
2
|
1.000 |
0.080 |
15 |
67744514 |
intron variant
|
A/G
|
snv |
|
0.53
|
0.010 |
1.000 |
1 |
2015 |
2015 |
rs1289324472
|
|
21
|
0.716 |
0.400 |
1 |
155236354 |
missense variant
|
T/C
|
snv |
|
1.4E-05
|
0.010 |
1.000 |
1 |
2014 |
2014 |
rs138008832
|
|
8
|
1.000 |
|
5 |
150123142 |
missense variant
|
G/A;T
|
snv |
1.1E-04;
1.6E-05
|
|
0.700 |
|
0 |
|
|
rs139194636
|
|
6
|
0.882 |
0.240 |
1 |
119033203 |
missense variant
|
T/C
|
snv |
6.4E-05
|
2.3E-04
|
0.700 |
|
0 |
|
|
rs1421405659
|
|
13
|
0.851 |
0.360 |
12 |
101642529 |
missense variant
|
T/C;G
|
snv |
|
|
0.700 |
|
0 |
|
|
rs146170087
|
|
7
|
0.925 |
0.040 |
19 |
29702747 |
missense variant
|
T/C
|
snv |
2.3E-03
|
1.1E-03
|
0.700 |
|
0 |
|
|
rs1554317002
|
|
45
|
0.724 |
0.440 |
7 |
39950821 |
frameshift variant
|
C/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1564282
|
|
3
|
1.000 |
0.040 |
4 |
858525 |
intron variant
|
C/T
|
snv |
|
8.1E-02
|
0.010 |
1.000 |
1 |
2014 |
2014 |
rs1569548274
|
|
43
|
0.701 |
0.520 |
X |
154030553 |
splice acceptor variant
|
TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1990622
|
|
16
|
0.742 |
0.200 |
7 |
12244161 |
downstream gene variant
|
A/G
|
snv |
|
0.52
|
0.010 |
1.000 |
1 |
2017 |
2017 |
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 |
|
|
rs2230288
|
|
18
|
0.776 |
0.160 |
1 |
155236376 |
missense variant
|
C/T
|
snv |
1.0E-02
|
1.0E-02
|
0.700 |
|
0 |
|
|
rs281865051
|
|
2
|
1.000 |
0.040 |
12 |
40319998 |
missense variant
|
T/C
|
snv |
|
|
0.010 |
1.000 |
1 |
2008 |
2008 |
rs3173615
|
|
12
|
0.807 |
0.200 |
7 |
12229791 |
missense variant
|
C/A;G
|
snv |
0.49
|
|
0.010 |
1.000 |
1 |
2017 |
2017 |
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 |
rs34016896
|
|
3
|
0.925 |
0.080 |
3 |
161275076 |
regulatory region variant
|
C/T
|
snv |
|
0.28
|
0.010 |
1.000 |
1 |
2018 |
2018 |
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 |