rs12696304
|
|
10
|
0.776 |
0.320 |
3 |
169763483 |
downstream gene variant
|
C/G
|
snv |
|
0.38
|
0.700 |
1.000 |
2 |
2015 |
2018 |
rs2111398
|
|
3
|
0.882 |
0.080 |
12 |
12922268 |
downstream gene variant
|
A/G
|
snv |
|
0.49
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs75691080
|
|
3
|
0.882 |
0.080 |
20 |
63638397 |
downstream gene variant
|
C/T
|
snv |
|
9.1E-02
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs2695237
|
|
3
|
0.882 |
0.080 |
1 |
226415934 |
upstream gene variant
|
T/A;C
|
snv |
|
|
0.700 |
1.000 |
1 |
2018 |
2018 |
rs3834129
|
|
38
|
0.627 |
0.560 |
2 |
201232809 |
upstream gene variant
|
AGTAAG/-
|
del |
|
0.48
|
0.010 |
1.000 |
1 |
2008 |
2008 |
rs1023835002
|
|
10
|
0.763 |
0.280 |
15 |
44711547 |
start lost
|
A/G;T
|
snv |
|
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs1057519877
|
|
10
|
0.763 |
0.280 |
15 |
44711549 |
start lost
|
G/A
|
snv |
|
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs1057519879
|
|
10
|
0.763 |
0.280 |
15 |
44711548 |
start lost
|
T/C;G
|
snv |
|
|
0.700 |
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 |
2017 |
2017 |
rs3200401
|
|
11
|
0.742 |
0.320 |
11 |
65504361 |
splice region variant
|
C/T
|
snv |
0.17
|
0.17
|
0.010 |
1.000 |
1 |
2019 |
2019 |
rs1131691014
|
|
214
|
0.439 |
0.800 |
17 |
7676154 |
frameshift variant
|
-/C
|
ins |
|
|
0.060 |
1.000 |
6 |
2010 |
2016 |
rs2910164
|
|
193
|
0.447 |
0.880 |
5 |
160485411 |
mature miRNA variant
|
C/G
|
snv |
0.71;
4.1E-06
|
0.70
|
0.010 |
1.000 |
1 |
2017 |
2017 |
rs1148732
|
|
3
|
0.882 |
0.080 |
12 |
12915357 |
3 prime UTR variant
|
G/A;C
|
snv |
|
|
0.700 |
1.000 |
1 |
2018 |
2018 |
rs1640875
|
|
3
|
0.882 |
0.080 |
12 |
12916590 |
3 prime UTR variant
|
A/T
|
snv |
|
0.49
|
0.700 |
1.000 |
1 |
2018 |
2018 |
rs1800872
|
|
119
|
0.495 |
0.840 |
1 |
206773062 |
5 prime UTR variant
|
T/G
|
snv |
|
0.69
|
0.010 |
1.000 |
1 |
2009 |
2009 |
rs206118
|
|
2
|
0.925 |
0.080 |
13 |
32315655 |
5 prime UTR variant
|
A/C;G
|
snv |
|
|
0.010 |
1.000 |
1 |
2015 |
2015 |
rs4444903
|
|
35
|
0.630 |
0.360 |
4 |
109912954 |
5 prime UTR variant
|
A/G
|
snv |
|
0.51
|
0.010 |
< 0.001 |
1 |
2015 |
2015 |
rs2227981
|
|
12
|
0.763 |
0.400 |
2 |
241851121 |
synonymous variant
|
A/C;G
|
snv |
1.6E-04;
0.63
|
|
0.010 |
1.000 |
1 |
2018 |
2018 |
rs10492396
|
|
2
|
0.925 |
0.080 |
13 |
32384750 |
non coding transcript exon variant
|
G/A
|
snv |
|
4.8E-02
|
0.010 |
1.000 |
1 |
2015 |
2015 |
rs2005974
|
|
3
|
0.882 |
0.080 |
22 |
38141105 |
non coding transcript exon variant
|
G/A
|
snv |
|
0.49
|
0.700 |
1.000 |
1 |
2018 |
2018 |
rs3752447
|
|
2
|
0.925 |
0.080 |
13 |
32407005 |
non coding transcript exon variant
|
C/T
|
snv |
|
0.17
|
0.010 |
1.000 |
1 |
2015 |
2015 |
rs619586
|
|
15
|
0.724 |
0.360 |
11 |
65498698 |
non coding transcript exon variant
|
A/G
|
snv |
5.9E-02
|
3.3E-02
|
0.010 |
1.000 |
1 |
2019 |
2019 |
rs113488022
|
|
490
|
0.351 |
0.840 |
7 |
140753336 |
missense variant
|
A/C;G;T
|
snv |
4.0E-06
|
|
0.800 |
1.000 |
26 |
2003 |
2020 |
rs121913377
|
|
480
|
0.354 |
0.840 |
7 |
140753335 |
missense variant
|
CA/AT;TT
|
mnv |
|
|
0.100 |
1.000 |
24 |
2003 |
2020 |
rs1042522
|
|
242
|
0.426 |
0.800 |
17 |
7676154 |
missense variant
|
G/C;T
|
snv |
0.67
|
|
0.070 |
1.000 |
7 |
2010 |
2019 |