rs1043618
|
|
10
|
0.752 |
0.280 |
6 |
31815730 |
5 prime UTR variant
|
G/A;C;T
|
snv |
0.39;
2.0E-05;
4.0E-06
|
|
0.700 |
|
0 |
|
|
rs1061581
|
|
6
|
0.827 |
0.200 |
6 |
31816809 |
synonymous variant
|
G/A
|
snv |
|
|
0.700 |
|
0 |
|
|
rs113993959
|
|
25
|
0.677 |
0.280 |
7 |
117587778 |
stop gained
|
G/A;T
|
snv |
8.0E-06;
3.4E-04
|
|
0.700 |
|
0 |
|
|
rs121912713
|
|
5
|
0.851 |
0.200 |
14 |
94378561 |
missense variant
|
A/C
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1457464431
|
|
3
|
0.882 |
0.160 |
14 |
94383069 |
missense variant
|
A/G
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1555367891
|
|
3
|
0.882 |
0.160 |
14 |
94378633 |
missense variant
|
T/C
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1555367892
|
|
3
|
0.882 |
0.160 |
14 |
94378633 |
frameshift variant
|
TG/-
|
del |
|
|
0.700 |
|
0 |
|
|
rs1555367896
|
|
3
|
0.882 |
0.160 |
14 |
94378640 |
splice donor variant
|
GGAGGGGAGAGAAGCAGAGACACGTTGTAAGGCTGATCCCAGGCCTCGAGCAAGGCTCACGTGGACACCTCCCAGGAAGCGCTCACTCCCCCTGGACGGCCCTGGCCCTGCACATCCTCTCCCTCCCTGTCACATAGGCCTTGCTCCTCCTCAAGGCTTTGGCTGATGGGGCTGGCTCCCCTCTGTCCATCTTCCTGACAAGCGCCTCTCCCCCTGCTCAGGTGCACCCACAACTCAGAACAGGGAAGAGCATCGTCACTCCACGTCTGCCTCCAGGGCTCTCTCCTTTCTAGTACACGGCTTGAAGCTCCTTGAGGACACGGACCCTGGCAGTGACCTTCACAGTGCCCAGACCCCAAGATAATGCAGCCATTCATGGAACTGCAGTTGTTCATTGGTCGCCTTTAGTTTTCCAAAATAAGTGTCATCTTTAGCTGAAATCATTCATTAATTCAGACACCAAATCTCACAGATCGAAGGAGTCAGAAATTCCTTTGAAACAACTTAGCCCAAACCTTTCTGTGTCAGTATGGATAAATCAAGGCCCAATGTCTAGAAGGTCTTGGGCAAAGTTGAAATTCAGGGTCAGTGACACAACCTCAAGGGAGGCCCCGAAAGTGCCAGCTGCACAGCAGTCCCCTGCCTGGCTTTGCTGTTTGACCACGTCCCGTGTCAGTGAATCACGGGCATCTTCAGGAGCTCAGCCTGGGTCTTCATTTGTTTCCCTCGGCCCCTTCCTCAGCCTCAGGACAGAGCTGCAGCCCCCACACATTCTTCCCTACAGATACCAGGGTGCAACAAGGTCGTCAGGGTGATCTCACCT/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1555369172
|
|
3
|
0.882 |
0.160 |
14 |
94383011 |
missense variant
|
A/G
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1555369299
|
|
3
|
0.882 |
0.160 |
14 |
94383237 |
start lost
|
T/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1567608853
|
|
6
|
0.925 |
0.160 |
16 |
88646212 |
non coding transcript exon variant
|
G/C
|
snv |
|
|
0.700 |
|
0 |
|
|
rs199422209
|
|
4
|
0.882 |
0.160 |
14 |
94378528 |
missense variant
|
G/A;C;T
|
snv |
4.8E-05;
1.2E-05;
3.2E-05
|
|
0.700 |
|
0 |
|
|
rs199422211
|
|
3
|
0.882 |
0.160 |
14 |
94381067 |
stop gained
|
T/A
|
snv |
1.6E-05
|
7.0E-06
|
0.700 |
|
0 |
|
|
rs2227956
|
|
12
|
0.752 |
0.400 |
6 |
31810495 |
missense variant
|
G/A;C;T
|
snv |
0.87
|
|
0.700 |
|
0 |
|
|
rs267606950
|
|
3
|
0.882 |
0.160 |
14 |
94382686 |
frameshift variant
|
G/-
|
del |
|
1.4E-05
|
0.700 |
|
0 |
|
|
rs2763979
|
|
5
|
0.827 |
0.360 |
6 |
31826815 |
upstream gene variant
|
C/T
|
snv |
|
0.45
|
0.700 |
|
0 |
|
|
rs562047
|
|
3
|
0.882 |
0.080 |
6 |
31816086 |
missense variant
|
G/C
|
snv |
0.16
|
|
0.700 |
|
0 |
|
|
rs6457452
|
|
4
|
0.851 |
0.200 |
6 |
31827773 |
5 prime UTR variant
|
C/G;T
|
snv |
8.5E-05;
9.3E-02;
1.4E-05
|
|
0.700 |
|
0 |
|
|
rs74597325
|
|
18
|
0.708 |
0.320 |
7 |
117587811 |
stop gained
|
C/G;T
|
snv |
6.8E-05
|
|
0.700 |
|
0 |
|
|
rs751235320
|
|
3
|
0.882 |
0.160 |
14 |
94382591 |
splice donor variant
|
C/A
|
snv |
4.0E-06
|
1.4E-05
|
0.700 |
|
0 |
|
|
rs756773408
|
|
3
|
0.882 |
0.160 |
14 |
94382592 |
missense variant
|
C/A
|
snv |
2.0E-05
|
2.8E-05
|
0.700 |
|
0 |
|
|
rs764325655
|
|
3
|
0.882 |
0.160 |
14 |
94378548 |
frameshift variant
|
G/-;GG
|
delins |
|
4.2E-05
|
0.700 |
|
0 |
|
|
rs11046966
|
|
1
|
1.000 |
0.040 |
12 |
23524758 |
downstream gene variant
|
T/C
|
snv |
|
0.24
|
0.010 |
< 0.001 |
1 |
2011 |
2011 |
rs11668247
|
|
1
|
1.000 |
0.040 |
19 |
43690210 |
intron variant
|
C/T
|
snv |
|
0.34
|
0.010 |
< 0.001 |
1 |
2009 |
2009 |
rs121917864
|
|
31
|
0.645 |
0.520 |
4 |
153704936 |
missense variant
|
C/T
|
snv |
8.8E-05
|
9.8E-05
|
0.010 |
< 0.001 |
1 |
2009 |
2009 |