rs1064795104
|
|
17
|
0.790 |
0.440 |
2 |
72498492 |
stop gained
|
A/C
|
snv |
|
|
0.700 |
1.000 |
2 |
2013 |
2014 |
rs121909149
|
|
2
|
0.925 |
0.160 |
4 |
2831573 |
missense variant
|
G/A;C
|
snv |
|
|
0.020 |
1.000 |
2 |
2012 |
2014 |
rs1057516036
|
|
4
|
0.925 |
0.160 |
7 |
94423065 |
missense variant
|
G/A
|
snv |
|
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs121908668
|
|
5
|
0.882 |
0.240 |
11 |
68357673 |
missense variant
|
G/T
|
snv |
|
|
0.010 |
1.000 |
1 |
2015 |
2015 |
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 |
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 |
rs1557043622
|
|
46
|
0.695 |
0.400 |
X |
48909843 |
missense variant
|
C/A
|
snv |
|
|
0.700 |
1.000 |
1 |
2019 |
2019 |
rs2228570
|
|
99
|
0.521 |
0.760 |
12 |
47879112 |
start lost
|
A/C;G;T
|
snv |
0.63
|
|
0.010 |
1.000 |
1 |
2019 |
2019 |
rs2273073
|
|
3
|
0.882 |
0.120 |
20 |
6770235 |
missense variant
|
T/C;G
|
snv |
2.4E-02
|
|
0.010 |
1.000 |
1 |
2008 |
2008 |
rs235768
|
|
8
|
0.807 |
0.160 |
20 |
6778468 |
missense variant
|
A/G;T
|
snv |
0.67
|
|
0.010 |
1.000 |
1 |
2006 |
2006 |
rs312009
|
|
2
|
0.925 |
0.080 |
11 |
68309770 |
upstream gene variant
|
T/A;C
|
snv |
|
|
0.010 |
1.000 |
1 |
2019 |
2019 |
rs4355801
|
|
5
|
0.882 |
0.120 |
8 |
118911634 |
regulatory region variant
|
A/G;T
|
snv |
|
|
0.010 |
1.000 |
1 |
2008 |
2008 |
rs4988321
|
|
4
|
0.851 |
0.160 |
11 |
68406721 |
missense variant
|
G/A;C
|
snv |
3.8E-02
|
|
0.010 |
1.000 |
1 |
2019 |
2019 |
rs5742905
|
|
22
|
0.701 |
0.360 |
21 |
43063074 |
missense variant
|
A/G
|
snv |
|
|
0.010 |
1.000 |
1 |
2018 |
2018 |
rs72645347
|
|
10
|
0.790 |
0.280 |
17 |
50196337 |
missense variant
|
G/A
|
snv |
|
|
0.010 |
1.000 |
1 |
2007 |
2007 |
rs72648365
|
|
2
|
0.925 |
0.240 |
17 |
50193990 |
missense variant
|
G/A;C
|
snv |
|
|
0.010 |
1.000 |
1 |
2007 |
2007 |
rs76763715
|
|
35
|
0.658 |
0.520 |
1 |
155235843 |
missense variant
|
T/C;G
|
snv |
2.3E-03
|
|
0.010 |
1.000 |
1 |
2008 |
2008 |
rs773472534
|
|
2
|
0.925 |
0.120 |
3 |
193618885 |
synonymous variant
|
G/A
|
snv |
2.8E-05
|
|
0.010 |
1.000 |
1 |
2018 |
2018 |
rs876657421
|
|
11
|
0.763 |
0.240 |
21 |
43063074 |
coding sequence variant
|
-/CCCAGCAAAAGCCCCACCTGGATGATCCACCCCAGTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAG;CCCAGCAAAAGCCCCACCTGGGTGATCCACCCCAGTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAG
|
delins |
|
|
0.010 |
1.000 |
1 |
2018 |
2018 |
rs9536314
|
|
3
|
0.925 |
0.160 |
13 |
33054001 |
missense variant
|
T/A;G
|
snv |
0.14
|
|
0.010 |
1.000 |
1 |
2015 |
2015 |
rs1057518930
|
|
3
|
1.000 |
0.080 |
17 |
50197009 |
splice donor variant
|
C/G
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1555222973
|
|
6
|
0.851 |
0.160 |
11 |
46312636 |
inframe deletion
|
AAG/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1569508922
|
|
5
|
0.882 |
0.160 |
X |
111681268 |
missense variant
|
T/A
|
snv |
|
|
0.700 |
|
0 |
|
|