rs3025058
|
|
26
|
0.658 |
0.600 |
11 |
102845217 |
upstream gene variant
|
-/C;G
|
ins |
|
2.8E-04
|
0.020 |
0.500 |
2 |
2014 |
2016 |
rs1555367892
|
|
3
|
0.882 |
0.160 |
14 |
94378633 |
frameshift variant
|
TG/-
|
del |
|
|
0.700 |
|
0 |
|
|
rs267606950
|
|
3
|
0.882 |
0.160 |
14 |
94382686 |
frameshift variant
|
G/-
|
del |
|
1.4E-05
|
0.700 |
|
0 |
|
|
rs113897301
|
|
1
|
1.000 |
0.040 |
5 |
157502070 |
intron variant
|
T/-;TT;TTTTTTTTTTT
|
delins |
|
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs1799750
|
|
48
|
0.592 |
0.760 |
11 |
102799765 |
intron variant
|
C/-
|
delins |
|
0.50
|
0.010 |
< 0.001 |
1 |
2016 |
2016 |
rs2069825
|
|
2
|
1.000 |
0.040 |
7 |
22725718 |
non coding transcript exon variant
|
-/CC
|
delins |
|
6.7E-05
|
0.010 |
1.000 |
1 |
2011 |
2011 |
rs2234663
|
|
14
|
0.716 |
0.480 |
2 |
113130529 |
intron variant
|
ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC/-;ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC;ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC;ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC
|
delins |
|
|
0.010 |
1.000 |
1 |
2014 |
2014 |
rs3831317
|
|
2
|
0.925 |
0.080 |
1 |
203217822 |
stop gained
|
-/AGACCATGGCCCCGCCCAGTCCCT
|
delins |
|
|
0.010 |
1.000 |
1 |
2016 |
2016 |
rs58709975
|
|
1
|
1.000 |
0.040 |
15 |
78535290 |
3 prime UTR variant
|
TTT/-;T;TT;TTTT;TTTTT;TTTTTTT
|
delins |
|
|
0.700 |
1.000 |
1 |
2011 |
2011 |
rs775982338
|
|
3
|
0.882 |
0.160 |
14 |
94383009 |
inframe deletion
|
AGA/-
|
delins |
|
1.7E-04
|
0.700 |
1.000 |
1 |
1989 |
1989 |
rs1555367896
|
|
3
|
0.882 |
0.160 |
14 |
94378640 |
splice donor variant
|
GGAGGGGAGAGAAGCAGAGACACGTTGTAAGGCTGATCCCAGGCCTCGAGCAAGGCTCACGTGGACACCTCCCAGGAAGCGCTCACTCCCCCTGGACGGCCCTGGCCCTGCACATCCTCTCCCTCCCTGTCACATAGGCCTTGCTCCTCCTCAAGGCTTTGGCTGATGGGGCTGGCTCCCCTCTGTCCATCTTCCTGACAAGCGCCTCTCCCCCTGCTCAGGTGCACCCACAACTCAGAACAGGGAAGAGCATCGTCACTCCACGTCTGCCTCCAGGGCTCTCTCCTTTCTAGTACACGGCTTGAAGCTCCTTGAGGACACGGACCCTGGCAGTGACCTTCACAGTGCCCAGACCCCAAGATAATGCAGCCATTCATGGAACTGCAGTTGTTCATTGGTCGCCTTTAGTTTTCCAAAATAAGTGTCATCTTTAGCTGAAATCATTCATTAATTCAGACACCAAATCTCACAGATCGAAGGAGTCAGAAATTCCTTTGAAACAACTTAGCCCAAACCTTTCTGTGTCAGTATGGATAAATCAAGGCCCAATGTCTAGAAGGTCTTGGGCAAAGTTGAAATTCAGGGTCAGTGACACAACCTCAAGGGAGGCCCCGAAAGTGCCAGCTGCACAGCAGTCCCCTGCCTGGCTTTGCTGTTTGACCACGTCCCGTGTCAGTGAATCACGGGCATCTTCAGGAGCTCAGCCTGGGTCTTCATTTGTTTCCCTCGGCCCCTTCCTCAGCCTCAGGACAGAGCTGCAGCCCCCACACATTCTTCCCTACAGATACCAGGGTGCAACAAGGTCGTCAGGGTGATCTCACCT/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1555369299
|
|
3
|
0.882 |
0.160 |
14 |
94383237 |
start lost
|
T/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs764325655
|
|
3
|
0.882 |
0.160 |
14 |
94378548 |
frameshift variant
|
G/-;GG
|
delins |
|
4.2E-05
|
0.700 |
|
0 |
|
|
rs1051730
|
|
43
|
0.641 |
0.600 |
15 |
78601997 |
synonymous variant
|
G/A
|
snv |
0.27
|
0.26
|
0.900 |
1.000 |
15 |
2010 |
2018 |
rs8034191
|
|
24
|
0.695 |
0.440 |
15 |
78513681 |
intron variant
|
T/C
|
snv |
|
0.27
|
0.880 |
1.000 |
10 |
2009 |
2018 |
rs16969968
|
|
37
|
0.653 |
0.360 |
15 |
78590583 |
missense variant
|
G/A
|
snv |
0.26
|
0.24
|
0.780 |
0.889 |
9 |
2010 |
2018 |
rs2070600
|
|
82
|
0.561 |
0.760 |
6 |
32183666 |
missense variant
|
C/T
|
snv |
5.3E-02
|
3.6E-02
|
0.760 |
1.000 |
8 |
2012 |
2019 |
rs12914385
|
|
18
|
0.790 |
0.160 |
15 |
78606381 |
intron variant
|
C/A;T
|
snv |
|
|
0.810 |
1.000 |
7 |
2011 |
2018 |
rs13180
|
|
7
|
0.851 |
0.160 |
15 |
78497146 |
synonymous variant
|
C/T
|
snv |
0.54
|
0.51
|
0.850 |
1.000 |
7 |
2010 |
2018 |
rs1042713
|
|
63
|
0.576 |
0.800 |
5 |
148826877 |
missense variant
|
G/A
|
snv |
0.42
|
0.43
|
0.060 |
0.833 |
6 |
2010 |
2018 |
rs721917
|
|
14
|
0.752 |
0.360 |
10 |
79946568 |
missense variant
|
A/G
|
snv |
0.47
|
0.42
|
0.740 |
1.000 |
6 |
2011 |
2019 |
rs7671167
|
|
7
|
0.925 |
0.040 |
4 |
88962828 |
intron variant
|
C/T
|
snv |
|
0.53
|
0.840 |
1.000 |
6 |
2010 |
2015 |
rs1695
|
|
188
|
0.457 |
0.880 |
11 |
67585218 |
missense variant
|
A/G
|
snv |
0.34
|
0.36
|
0.050 |
1.000 |
5 |
2004 |
2013 |
rs1042714
|
|
54
|
0.597 |
0.640 |
5 |
148826910 |
stop gained
|
G/C;T
|
snv |
0.68
|
|
0.040 |
1.000 |
4 |
2012 |
2019 |
rs13118928
|
|
7
|
0.925 |
0.040 |
4 |
144565237 |
intron variant
|
A/G
|
snv |
|
0.33
|
0.830 |
1.000 |
4 |
2010 |
2017 |