rs1131691014
|
|
214
|
0.439 |
0.800 |
17 |
7676154 |
frameshift variant
|
-/C
|
ins |
|
|
0.010 |
1.000 |
1 |
2012 |
2012 |
rs371194629
|
|
8
|
0.790 |
0.320 |
6 |
29830804 |
3 prime UTR variant
|
-/ATTTGT;ATTTGTTCACGCCT;ATTTGTTCATGCCT
|
ins |
|
|
0.010 |
1.000 |
1 |
2017 |
2017 |
rs121913377
|
|
480
|
0.354 |
0.840 |
7 |
140753335 |
missense variant
|
CA/AT;TT
|
mnv |
|
|
0.010 |
1.000 |
1 |
2018 |
2018 |
rs878854066
|
|
213
|
0.439 |
0.800 |
17 |
7676153 |
missense variant
|
GG/AC
|
mnv |
|
|
0.010 |
1.000 |
1 |
2012 |
2012 |
rs34743033
|
|
8
|
0.776 |
0.200 |
18 |
657657 |
5 prime UTR variant
|
GGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCCC/CGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG;CGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG;CGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG
|
delins |
|
|
0.010 |
1.000 |
1 |
2015 |
2015 |
rs72552763
|
|
3
|
0.925 |
0.040 |
6 |
160139849 |
inframe deletion
|
GAT/-
|
delins |
|
0.15
|
0.010 |
1.000 |
1 |
2017 |
2017 |
rs8175347
|
|
16
|
0.708 |
0.400 |
2 |
233760234 |
intron variant
|
TATA/-;TA;TATATA;TATATATA;TATATATATA;TATATATATATA
|
delins |
|
|
0.010 |
1.000 |
1 |
2015 |
2015 |
rs1045642
|
|
214
|
0.456 |
0.840 |
7 |
87509329 |
synonymous variant
|
A/G;T
|
snv |
0.50
|
|
0.080 |
0.875 |
8 |
2009 |
2017 |
rs2032582
|
|
97
|
0.538 |
0.800 |
7 |
87531302 |
missense variant
|
A/C;T
|
snv |
0.54;
3.8E-02
|
|
0.050 |
1.000 |
5 |
2007 |
2017 |
rs1801160
|
|
6
|
0.807 |
0.240 |
1 |
97305364 |
missense variant
|
C/T
|
snv |
4.7E-02
|
3.9E-02
|
0.040 |
1.000 |
4 |
2009 |
2019 |
rs2072671
|
|
16
|
0.752 |
0.280 |
1 |
20589208 |
missense variant
|
A/C
|
snv |
0.28
|
0.25
|
0.030 |
1.000 |
3 |
2012 |
2019 |
rs2814778
|
|
24
|
0.763 |
0.360 |
1 |
159204893 |
5 prime UTR variant
|
T/C
|
snv |
|
0.25
|
0.030 |
1.000 |
3 |
2008 |
2019 |
rs67376798
|
|
9
|
0.851 |
0.120 |
1 |
97082391 |
missense variant
|
T/A
|
snv |
2.8E-03
|
3.3E-03
|
0.030 |
1.000 |
3 |
2014 |
2019 |
rs1042522
|
|
242
|
0.426 |
0.800 |
17 |
7676154 |
missense variant
|
G/C;T
|
snv |
0.67
|
|
0.020 |
1.000 |
2 |
2012 |
2014 |
rs1128503
|
|
64
|
0.564 |
0.760 |
7 |
87550285 |
synonymous variant
|
A/G
|
snv |
0.54
|
0.63
|
0.020 |
1.000 |
2 |
2010 |
2014 |
rs1695
|
|
188
|
0.457 |
0.880 |
11 |
67585218 |
missense variant
|
A/G
|
snv |
0.34
|
0.36
|
0.020 |
1.000 |
2 |
2013 |
2018 |
rs2297595
|
|
10
|
0.776 |
0.320 |
1 |
97699535 |
missense variant
|
T/C
|
snv |
8.5E-02
|
8.1E-02
|
0.020 |
1.000 |
2 |
2009 |
2019 |
rs104893624
|
|
4
|
0.851 |
0.200 |
2 |
136114928 |
stop gained
|
G/A
|
snv |
|
|
0.010 |
1.000 |
1 |
2009 |
2009 |
rs1050274678
|
|
3
|
0.925 |
0.040 |
21 |
45530803 |
missense variant
|
C/T
|
snv |
1.1E-05
|
7.0E-06
|
0.010 |
1.000 |
1 |
2016 |
2016 |
rs1057910
|
|
12
|
0.776 |
0.280 |
10 |
94981296 |
missense variant
|
A/C;G
|
snv |
6.3E-02;
4.0E-06
|
|
0.010 |
1.000 |
1 |
2017 |
2017 |
rs10824095
|
|
2
|
0.925 |
0.040 |
10 |
74176853 |
5 prime UTR variant
|
C/G;T
|
snv |
0.67
|
|
0.010 |
1.000 |
1 |
2015 |
2015 |
rs11141915
|
|
3
|
0.882 |
0.160 |
9 |
87620879 |
intron variant
|
A/C
|
snv |
|
0.25
|
0.010 |
1.000 |
1 |
2012 |
2012 |
rs113488022
|
|
490
|
0.351 |
0.840 |
7 |
140753336 |
missense variant
|
A/C;G;T
|
snv |
4.0E-06
|
|
0.010 |
1.000 |
1 |
2018 |
2018 |
rs11536889
|
|
27
|
0.658 |
0.560 |
9 |
117715853 |
3 prime UTR variant
|
G/C
|
snv |
|
0.11
|
0.010 |
1.000 |
1 |
2011 |
2011 |
rs11615
|
|
62
|
0.572 |
0.640 |
19 |
45420395 |
synonymous variant
|
A/G
|
snv |
0.50
|
0.55
|
0.010 |
1.000 |
1 |
2020 |
2020 |