rs17601696
|
|
2
|
|
|
10 |
121360522 |
intergenic variant
|
C/T
|
snv |
|
6.0E-02
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs202102815
|
|
1
|
|
|
17 |
63941396 |
missense variant
|
G/A;T
|
snv |
1.5E-04;
8.0E-06
|
|
0.010 |
1.000 |
1 |
2017 |
2017 |
rs861539
|
|
104
|
0.519 |
0.680 |
14 |
103699416 |
missense variant
|
G/A
|
snv |
0.29
|
0.30
|
0.010 |
1.000 |
1 |
2009 |
2009 |
rs121912438
|
|
58
|
0.605 |
0.520 |
21 |
31667299 |
missense variant
|
G/A;C;T
|
snv |
1.2E-05;
8.0E-06
|
|
0.010 |
1.000 |
1 |
2010 |
2010 |
rs770374710
|
|
87
|
0.611 |
0.560 |
15 |
23645747 |
frameshift variant
|
G/-;GG
|
delins |
|
|
0.700 |
|
0 |
|
|
rs368869806
|
|
97
|
0.614 |
0.480 |
9 |
95485875 |
splice acceptor variant
|
C/T
|
snv |
4.0E-06
|
7.0E-06
|
0.700 |
|
0 |
|
|
rs1276519904
|
|
63
|
0.645 |
0.520 |
1 |
226071445 |
missense variant
|
A/G
|
snv |
|
|
0.700 |
|
0 |
|
|
rs165599
|
|
27
|
0.677 |
0.280 |
22 |
19969258 |
3 prime UTR variant
|
G/A
|
snv |
|
0.56
|
0.010 |
1.000 |
1 |
2015 |
2015 |
rs779027563
|
|
58
|
0.677 |
0.360 |
17 |
42687838 |
missense variant
|
G/C
|
snv |
4.0E-06
|
7.0E-06
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs1057519389
|
|
46
|
0.695 |
0.400 |
10 |
129957324 |
missense variant
|
C/A;G;T
|
snv |
|
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs1569548274
|
|
43
|
0.701 |
0.520 |
X |
154030553 |
splice acceptor variant
|
TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs200661329
|
|
48
|
0.708 |
0.440 |
16 |
576255 |
splice donor variant
|
G/A;C
|
snv |
5.7E-05
|
|
0.700 |
|
0 |
|
|
rs1345176461
|
|
40
|
0.716 |
0.240 |
14 |
77027231 |
stop gained
|
G/A;T
|
snv |
4.3E-06
|
|
0.700 |
|
0 |
|
|
rs28934907
|
|
30
|
0.732 |
0.320 |
X |
154032268 |
missense variant
|
G/A;C
|
snv |
|
|
0.700 |
|
0 |
|
|
rs151344517
|
|
31
|
0.742 |
0.320 |
18 |
12337505 |
missense variant
|
C/T
|
snv |
|
|
0.700 |
1.000 |
1 |
2010 |
2010 |
rs1555727493
|
|
46
|
0.742 |
0.480 |
19 |
35718020 |
frameshift variant
|
-/GGCGGGCGGCGGC
|
delins |
|
|
0.700 |
|
0 |
|
|
rs34757931
|
|
26
|
0.742 |
0.360 |
11 |
119081189 |
missense variant
|
T/G
|
snv |
1.2E-04
|
5.6E-05
|
0.700 |
|
0 |
|
|
rs774277300
|
|
17
|
0.742 |
0.360 |
11 |
94447276 |
stop gained
|
G/A;C;T
|
snv |
2.8E-05;
4.0E-05;
4.0E-06
|
|
0.700 |
|
0 |
|
|
rs121908557
|
|
23
|
0.752 |
0.280 |
17 |
63957514 |
missense variant
|
C/T
|
snv |
8.2E-06
|
1.4E-05
|
0.700 |
1.000 |
2 |
2004 |
2008 |
rs63750687
|
|
33
|
0.752 |
0.200 |
14 |
73217137 |
missense variant
|
C/A;G;T
|
snv |
|
|
0.700 |
1.000 |
1 |
2014 |
2014 |
rs1555968941
|
|
31
|
0.752 |
0.280 |
12 |
2653847 |
missense variant
|
G/A;C
|
snv |
|
|
0.700 |
|
0 |
|
|
rs878853250
|
|
37
|
0.752 |
0.360 |
12 |
51699663 |
stop gained
|
T/A;C
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1064796765
|
|
19
|
0.763 |
0.240 |
14 |
102002950 |
missense variant
|
G/A
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1554699491
|
|
23
|
0.763 |
0.280 |
9 |
85596450 |
splice acceptor variant
|
C/A
|
snv |
|
|
0.700 |
|
0 |
|
|
rs780631499
|
|
23
|
0.763 |
0.280 |
9 |
85588465 |
frameshift variant
|
G/-
|
del |
4.0E-06
|
7.0E-06
|
0.700 |
|
0 |
|
|