rs368234815
|
|
15
|
0.742 |
0.280 |
19 |
39248514 |
frameshift variant
|
TT/G;T
|
delins |
|
|
0.020 |
1.000 |
2 |
2015 |
2016 |
rs139292
|
|
1
|
1.000 |
|
22 |
39100318 |
inframe deletion
|
CAA/-
|
delins |
|
|
0.010 |
1.000 |
1 |
2016 |
2016 |
rs17878969
|
|
1
|
1.000 |
|
12 |
47842624 |
3 prime UTR variant
|
TTTTTTTTTT/-;T;TT;TTT;TTTT;TTTTT;TTTTTT;TTTTTTT;TTTTTTTT;TTTTTTTTT;TTTTTTTTTTT;TTTTTTTTTTTT;TTTTTTTTTTTTT;TTTTTTTTTTTTTT;TTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTT
|
delins |
|
|
0.010 |
1.000 |
1 |
2008 |
2008 |
rs3217318
|
|
1
|
1.000 |
|
19 |
17406018 |
non coding transcript exon variant
|
GGGGCGGGGCCTGGGTCTG/-;GGGGCGGGGCCTGGGTCTGGGGGCGGGGCCTGGGTCTG
|
delins |
|
|
0.010 |
1.000 |
1 |
2013 |
2013 |
rs1799864
|
|
68
|
0.572 |
0.680 |
3 |
46357717 |
missense variant
|
G/A
|
snv |
0.13
|
0.12
|
0.070 |
0.857 |
7 |
2002 |
2015 |
rs8177832
|
|
5
|
0.851 |
0.160 |
22 |
39081561 |
missense variant
|
A/G
|
snv |
5.9E-02
|
0.14
|
0.040 |
1.000 |
4 |
2008 |
2018 |
rs763059810
|
|
41
|
0.623 |
0.600 |
2 |
136115750 |
missense variant
|
T/C
|
snv |
4.0E-06
|
|
0.030 |
1.000 |
3 |
2002 |
2014 |
rs10754558
|
|
20
|
0.695 |
0.480 |
1 |
247448734 |
3 prime UTR variant
|
G/C;T
|
snv |
|
|
0.020 |
1.000 |
2 |
2010 |
2012 |
rs11038628
|
|
1
|
1.000 |
|
11 |
5667710 |
missense variant
|
C/T
|
snv |
0.14
|
0.14
|
0.020 |
1.000 |
2 |
2013 |
2019 |
rs1544410
|
|
78
|
0.542 |
0.760 |
12 |
47846052 |
intron variant
|
C/A;G;T
|
snv |
|
|
0.020 |
1.000 |
2 |
2008 |
2010 |
rs4986790
|
|
223
|
0.438 |
0.800 |
9 |
117713024 |
missense variant
|
A/G;T
|
snv |
6.1E-02;
4.0E-06
|
|
0.020 |
1.000 |
2 |
2010 |
2019 |
rs1015164
|
|
8
|
0.925 |
|
3 |
46410189 |
intron variant
|
A/C;G;T
|
snv |
|
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs10415893
|
|
1
|
1.000 |
|
19 |
17401603 |
upstream gene variant
|
G/A
|
snv |
|
0.18
|
0.010 |
1.000 |
1 |
2013 |
2013 |
rs1047552
|
|
2
|
0.925 |
0.080 |
15 |
63305658 |
missense variant
|
T/A;G
|
snv |
6.1E-02
|
4.7E-02
|
0.010 |
1.000 |
1 |
2009 |
2009 |
rs10484554
|
|
11
|
0.807 |
0.200 |
6 |
31306778 |
intron variant
|
C/T
|
snv |
|
0.12
|
0.010 |
1.000 |
1 |
2017 |
2017 |
rs1063320
|
|
12
|
0.752 |
0.360 |
6 |
29830972 |
3 prime UTR variant
|
C/G;T
|
snv |
|
|
0.010 |
1.000 |
1 |
2014 |
2014 |
rs10808739
|
|
6
|
0.882 |
|
8 |
64727703 |
intron variant
|
G/A
|
snv |
|
0.24
|
0.010 |
1.000 |
1 |
2015 |
2015 |
rs10831234
|
|
1
|
1.000 |
|
11 |
94500021 |
downstream gene variant
|
C/T
|
snv |
|
0.11
|
0.010 |
1.000 |
1 |
2019 |
2019 |
rs10892324
|
|
5
|
0.925 |
|
11 |
119032329 |
upstream gene variant
|
T/A;G
|
snv |
|
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs11157436
|
|
7
|
0.851 |
0.040 |
14 |
22168978 |
synonymous variant
|
C/T
|
snv |
|
0.19
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs11212495
|
|
1
|
1.000 |
|
11 |
108048172 |
intron variant
|
A/G;T
|
snv |
|
|
0.010 |
1.000 |
1 |
2017 |
2017 |
rs11231017
|
|
5
|
0.925 |
|
11 |
62293877 |
downstream gene variant
|
G/A
|
snv |
|
0.29
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs1126477
|
|
7
|
0.807 |
0.200 |
3 |
46459778 |
missense variant
|
C/T
|
snv |
0.34
|
0.53
|
0.010 |
1.000 |
1 |
2015 |
2015 |
rs1126478
|
|
11
|
0.763 |
0.240 |
3 |
46459723 |
missense variant
|
T/C
|
snv |
0.41
|
0.51
|
0.010 |
1.000 |
1 |
2015 |
2015 |
rs1143634
|
|
52
|
0.597 |
0.680 |
2 |
112832813 |
synonymous variant
|
G/A
|
snv |
0.19
|
0.19
|
0.010 |
1.000 |
1 |
2012 |
2012 |