rs1010184002
|
|
60
|
0.689 |
0.400 |
6 |
42978878 |
stop gained
|
C/T
|
snv |
|
7.0E-06
|
0.700 |
|
0 |
|
|
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 |
rs1057516036
|
|
4
|
0.925 |
0.160 |
7 |
94423065 |
missense variant
|
G/A
|
snv |
|
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs1057518930
|
|
3
|
1.000 |
0.080 |
17 |
50197009 |
splice donor variant
|
C/G
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1064795104
|
|
17
|
0.790 |
0.440 |
2 |
72498492 |
stop gained
|
A/C
|
snv |
|
|
0.700 |
1.000 |
2 |
2013 |
2014 |
rs1217691063
|
|
614
|
0.330 |
0.920 |
1 |
11796309 |
missense variant
|
A/G
|
snv |
4.0E-06
|
7.0E-06
|
0.010 |
1.000 |
1 |
2006 |
2006 |
rs121908668
|
|
5
|
0.882 |
0.240 |
11 |
68357673 |
missense variant
|
G/T
|
snv |
|
|
0.010 |
1.000 |
1 |
2015 |
2015 |
rs121909149
|
|
2
|
0.925 |
0.160 |
4 |
2831573 |
missense variant
|
G/A;C
|
snv |
|
|
0.020 |
1.000 |
2 |
2012 |
2014 |
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 |
2018 |
2018 |
rs121918459
|
|
47
|
0.662 |
0.440 |
12 |
112450368 |
missense variant
|
A/G
|
snv |
1.2E-05
|
7.0E-06
|
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 |
rs1335534133
|
|
1
|
1.000 |
0.080 |
X |
32485069 |
missense variant
|
G/A
|
snv |
|
9.5E-06
|
0.010 |
1.000 |
1 |
2005 |
2005 |
rs139751598
|
|
13
|
0.851 |
0.240 |
17 |
81934931 |
missense variant
|
C/T
|
snv |
2.4E-05
|
4.2E-05
|
0.700 |
|
0 |
|
|
rs1423415130
|
|
6
|
0.851 |
0.120 |
17 |
50360241 |
missense variant
|
G/A
|
snv |
|
7.0E-06
|
0.700 |
|
0 |
|
|
rs1473998316
|
|
1
|
1.000 |
0.080 |
17 |
50195926 |
synonymous variant
|
A/G
|
snv |
|
|
0.010 |
1.000 |
1 |
2007 |
2007 |
rs151344517
|
|
31
|
0.742 |
0.320 |
18 |
12337505 |
missense variant
|
C/T
|
snv |
|
|
0.700 |
1.000 |
1 |
2010 |
2010 |
rs1544410
|
|
78
|
0.542 |
0.760 |
12 |
47846052 |
intron variant
|
C/A;G;T
|
snv |
|
|
0.010 |
1.000 |
1 |
2015 |
2015 |
rs1555222973
|
|
6
|
0.851 |
0.160 |
11 |
46312636 |
inframe deletion
|
AAG/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1557043622
|
|
46
|
0.695 |
0.400 |
X |
48909843 |
missense variant
|
C/A
|
snv |
|
|
0.700 |
1.000 |
1 |
2019 |
2019 |
rs1569508922
|
|
5
|
0.882 |
0.160 |
X |
111681268 |
missense variant
|
T/A
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1569548274
|
|
43
|
0.701 |
0.520 |
X |
154030553 |
splice acceptor variant
|
TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1653624
|
|
2
|
0.925 |
0.120 |
12 |
121184717 |
missense variant
|
T/A
|
snv |
|
1.5E-02
|
0.010 |
1.000 |
1 |
2012 |
2012 |
rs1883832
|
|
52
|
0.581 |
0.680 |
20 |
46118343 |
5 prime UTR variant
|
T/C
|
snv |
0.75
|
0.80
|
0.010 |
1.000 |
1 |
2008 |
2008 |
rs2073617
|
|
9
|
0.776 |
0.360 |
8 |
118952044 |
upstream gene variant
|
G/A
|
snv |
|
0.58
|
0.010 |
1.000 |
1 |
2016 |
2016 |
rs2228570
|
|
99
|
0.521 |
0.760 |
12 |
47879112 |
start lost
|
A/C;G;T
|
snv |
0.63
|
|
0.010 |
1.000 |
1 |
2019 |
2019 |