rs74315405
|
|
6
|
0.827 |
0.160 |
20 |
4699813 |
missense variant
|
T/C
|
snv |
|
|
0.720 |
0.500 |
2 |
1996 |
2016 |
rs767181086
|
|
11
|
0.827 |
0.240 |
1 |
183220922 |
stop gained
|
G/A;T
|
snv |
8.0E-06;
4.0E-06
|
|
0.010 |
1.000 |
1 |
2019 |
2019 |
rs372805579
|
|
5
|
0.851 |
0.200 |
17 |
80195302 |
missense variant
|
G/A
|
snv |
2.4E-05
|
2.8E-05
|
0.020 |
1.000 |
2 |
1999 |
2013 |
rs3865444
|
|
8
|
0.851 |
0.160 |
19 |
51224706 |
upstream gene variant
|
C/A
|
snv |
|
0.25
|
0.700 |
1.000 |
1 |
2012 |
2012 |
rs393152
|
|
7
|
0.851 |
0.160 |
17 |
45641777 |
non coding transcript exon variant
|
A/G
|
snv |
0.18
|
0.29
|
0.700 |
1.000 |
1 |
2012 |
2012 |
rs610932
|
|
5
|
0.851 |
0.080 |
11 |
60171834 |
downstream gene variant
|
T/G
|
snv |
|
0.57
|
0.700 |
1.000 |
1 |
2012 |
2012 |
rs744373
|
|
8
|
0.851 |
0.160 |
2 |
127137039 |
downstream gene variant
|
A/G
|
snv |
|
0.35
|
0.700 |
1.000 |
1 |
2012 |
2012 |
rs74315406
|
|
5
|
0.851 |
0.160 |
20 |
4699870 |
missense variant
|
A/G
|
snv |
|
|
0.700 |
|
0 |
|
|
rs74315412
|
|
5
|
0.851 |
0.120 |
20 |
4699843 |
missense variant
|
G/A
|
snv |
6.0E-05
|
3.5E-05
|
0.700 |
|
0 |
|
|
rs74315402
|
|
7
|
0.882 |
0.200 |
20 |
4699570 |
missense variant
|
C/T
|
snv |
|
|
0.750 |
1.000 |
5 |
1999 |
2014 |
rs11538758
|
|
8
|
0.882 |
0.160 |
20 |
4699534 |
missense variant
|
C/A;T
|
snv |
|
|
0.720 |
1.000 |
2 |
1993 |
1999 |
rs74315414
|
|
5
|
0.882 |
0.200 |
20 |
4699533 |
missense variant
|
C/A;T
|
snv |
4.0E-06
|
|
0.720 |
1.000 |
2 |
2008 |
2011 |
rs11767557
|
|
4
|
0.882 |
0.080 |
7 |
143412046 |
intron variant
|
T/C
|
snv |
|
0.18
|
0.700 |
1.000 |
1 |
2012 |
2012 |
rs16990018
|
|
5
|
0.882 |
0.120 |
20 |
4699732 |
missense variant
|
A/G
|
snv |
3.8E-03
|
1.6E-02
|
0.010 |
1.000 |
1 |
2011 |
2011 |
rs2736990
|
|
4
|
0.882 |
0.080 |
4 |
89757390 |
intron variant
|
G/A;T
|
snv |
|
|
0.700 |
1.000 |
1 |
2012 |
2012 |
rs2814707
|
|
4
|
0.882 |
0.120 |
9 |
27536399 |
non coding transcript exon variant
|
C/G;T
|
snv |
|
|
0.700 |
1.000 |
1 |
2012 |
2012 |
rs74315411
|
|
4
|
0.882 |
0.160 |
20 |
4699767 |
missense variant
|
A/G
|
snv |
|
|
0.710 |
1.000 |
1 |
2004 |
2004 |
rs193922906
|
|
4
|
0.882 |
0.160 |
20 |
4699380 |
inframe insertion
|
TCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC/-;TCATGGTGGTGGCTGGGGGCAGCC;TCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC;TCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC
|
delins |
|
|
0.700 |
|
0 |
|
|
rs80356710
|
|
3
|
0.925 |
0.040 |
20 |
4699655 |
stop gained
|
T/G
|
snv |
|
|
0.730 |
1.000 |
3 |
2011 |
2019 |
rs761807915
|
|
4
|
0.925 |
0.120 |
20 |
4699824 |
missense variant
|
G/A
|
snv |
4.0E-06
|
7.0E-06
|
0.020 |
1.000 |
2 |
2007 |
2011 |
rs1178466848
|
|
4
|
0.925 |
0.120 |
20 |
4699785 |
missense variant
|
G/A
|
snv |
|
2.8E-05
|
0.010 |
1.000 |
1 |
2019 |
2019 |
rs1473972013
|
|
3
|
0.925 |
0.160 |
1 |
47035911 |
missense variant
|
G/A
|
snv |
|
7.0E-06
|
0.010 |
1.000 |
1 |
2019 |
2019 |
rs368821179
|
|
3
|
0.925 |
0.160 |
17 |
80182758 |
missense variant
|
T/C
|
snv |
8.0E-06
|
2.1E-05
|
0.010 |
1.000 |
1 |
1999 |
1999 |
rs398122370
|
|
4
|
0.925 |
0.160 |
20 |
4699851 |
missense variant
|
G/C
|
snv |
|
|
0.010 |
1.000 |
1 |
2000 |
2000 |
rs398122414
|
|
3
|
0.925 |
0.120 |
20 |
4699898 |
stop gained
|
C/A
|
snv |
|
|
0.010 |
1.000 |
1 |
2018 |
2018 |