rs104893941
|
|
9
|
0.776 |
0.200 |
5 |
179836445 |
missense variant
|
C/T
|
snv |
9.8E-04
|
1.3E-03
|
0.010 |
1.000 |
1 |
2007 |
2007 |
rs2073617
|
|
9
|
0.776 |
0.360 |
8 |
118952044 |
upstream gene variant
|
G/A
|
snv |
|
0.58
|
0.010 |
1.000 |
1 |
2016 |
2016 |
rs72645347
|
|
10
|
0.790 |
0.280 |
17 |
50196337 |
missense variant
|
G/A
|
snv |
|
|
0.010 |
1.000 |
1 |
2007 |
2007 |
rs876657421
|
|
11
|
0.763 |
0.240 |
21 |
43063074 |
coding sequence variant
|
-/CCCAGCAAAAGCCCCACCTGGATGATCCACCCCAGTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAG;CCCAGCAAAAGCCCCACCTGGGTGATCCACCCCAGTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAG
|
delins |
|
|
0.010 |
1.000 |
1 |
2018 |
2018 |
rs3736228
|
|
13
|
0.752 |
0.400 |
11 |
68433827 |
missense variant
|
C/T
|
snv |
0.13
|
0.11
|
0.010 |
1.000 |
1 |
2008 |
2008 |
rs700518
|
|
13
|
0.732 |
0.320 |
15 |
51236915 |
synonymous variant
|
T/C
|
snv |
0.43
|
0.40
|
0.010 |
1.000 |
1 |
2013 |
2013 |
rs139751598
|
|
13
|
0.851 |
0.240 |
17 |
81934931 |
missense variant
|
C/T
|
snv |
2.4E-05
|
4.2E-05
|
0.700 |
|
0 |
|
|
rs3087456
|
|
14
|
0.742 |
0.480 |
16 |
10877045 |
intron variant
|
G/A
|
snv |
|
0.53
|
0.010 |
1.000 |
1 |
2012 |
2012 |
rs863225045
|
|
15
|
0.790 |
0.360 |
10 |
95637327 |
missense variant
|
C/A;T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs2230912
|
|
16
|
0.752 |
0.280 |
12 |
121184393 |
missense variant
|
A/G
|
snv |
0.13
|
0.12
|
0.010 |
1.000 |
1 |
2012 |
2012 |
rs1064795104
|
|
17
|
0.790 |
0.440 |
2 |
72498492 |
stop gained
|
A/C
|
snv |
|
|
0.700 |
1.000 |
2 |
2013 |
2014 |
rs587784177
|
|
20
|
0.790 |
0.280 |
5 |
177283827 |
missense variant
|
G/A
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1289324472
|
|
21
|
0.716 |
0.400 |
1 |
155236354 |
missense variant
|
T/C
|
snv |
|
1.4E-05
|
0.010 |
1.000 |
1 |
2008 |
2008 |
rs5742905
|
|
22
|
0.701 |
0.360 |
21 |
43063074 |
missense variant
|
A/G
|
snv |
|
|
0.010 |
1.000 |
1 |
2018 |
2018 |
rs759191907
|
|
25
|
0.776 |
0.360 |
9 |
127825225 |
splice region variant
|
A/G
|
snv |
8.0E-06
|
|
0.700 |
|
0 |
|
|
rs312262690
|
|
28
|
0.752 |
0.320 |
4 |
79984831 |
frameshift variant
|
-/G;GG
|
delins |
1.7E-05
|
|
0.700 |
|
0 |
|
|
rs151344517
|
|
31
|
0.742 |
0.320 |
18 |
12337505 |
missense variant
|
C/T
|
snv |
|
|
0.700 |
1.000 |
1 |
2010 |
2010 |
rs66527965
|
|
31
|
0.763 |
0.240 |
17 |
50193038 |
missense variant
|
C/A;T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs76763715
|
|
35
|
0.658 |
0.520 |
1 |
155235843 |
missense variant
|
T/C;G
|
snv |
2.3E-03
|
|
0.010 |
1.000 |
1 |
2008 |
2008 |
rs587782995
|
|
42
|
0.708 |
0.360 |
5 |
140114480 |
missense variant
|
T/C
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1569548274
|
|
43
|
0.701 |
0.520 |
X |
154030553 |
splice acceptor variant
|
TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs61816761
|
|
43
|
0.658 |
0.640 |
1 |
152313385 |
stop gained
|
G/A;T
|
snv |
9.4E-03;
8.0E-06
|
|
0.700 |
|
0 |
|
|
rs755622
|
|
44
|
0.611 |
0.720 |
22 |
23894205 |
intron variant
|
G/C
|
snv |
|
0.26
|
0.010 |
1.000 |
1 |
2010 |
2010 |
rs1557043622
|
|
46
|
0.695 |
0.400 |
X |
48909843 |
missense variant
|
C/A
|
snv |
|
|
0.700 |
1.000 |
1 |
2019 |
2019 |
rs7412
|
|
47
|
0.641 |
0.640 |
19 |
44908822 |
missense variant
|
C/T
|
snv |
6.2E-02
|
7.9E-02
|
0.010 |
1.000 |
1 |
2010 |
2010 |