rs121913377
|
|
480
|
0.354 |
0.840 |
7 |
140753335 |
missense variant
|
CA/AT;TT
|
mnv |
|
|
0.100 |
0.987 |
79 |
2003 |
2020 |
rs104894228
|
|
48
|
0.605 |
0.560 |
11 |
534286 |
missense variant
|
C/A;G;T
|
snv |
|
|
0.710 |
1.000 |
6 |
2007 |
2015 |
rs965513
|
|
15
|
0.742 |
0.200 |
9 |
97793827 |
intron variant
|
A/G;T
|
snv |
|
|
0.060 |
1.000 |
6 |
2012 |
2016 |
rs104894229
|
|
73
|
0.564 |
0.600 |
11 |
534289 |
missense variant
|
C/A;G;T
|
snv |
|
|
0.700 |
1.000 |
5 |
2007 |
2016 |
rs104894230
|
|
73
|
0.564 |
0.600 |
11 |
534288 |
missense variant
|
C/A;G;T
|
snv |
|
|
0.700 |
1.000 |
5 |
2007 |
2016 |
rs121913233
|
|
37
|
0.627 |
0.520 |
11 |
533874 |
missense variant
|
T/A;C;G
|
snv |
|
|
0.700 |
1.000 |
5 |
2007 |
2016 |
rs1867277
|
|
10
|
0.776 |
0.160 |
9 |
97853632 |
5 prime UTR variant
|
A/G
|
snv |
|
0.63
|
0.050 |
1.000 |
5 |
2009 |
2015 |
rs6983267
|
|
62
|
0.578 |
0.440 |
8 |
127401060 |
non coding transcript exon variant
|
G/T
|
snv |
|
0.37
|
0.050 |
1.000 |
5 |
2012 |
2017 |
rs944289
|
|
16
|
0.742 |
0.200 |
14 |
36180040 |
upstream gene variant
|
C/T
|
snv |
|
0.45
|
0.050 |
1.000 |
5 |
2012 |
2015 |
rs112445441
|
|
32
|
0.658 |
0.400 |
12 |
25245347 |
missense variant
|
C/A;G;T
|
snv |
|
|
0.700 |
1.000 |
4 |
2007 |
2013 |
rs116909374
|
|
11
|
0.776 |
0.120 |
14 |
36269155 |
regulatory region variant
|
C/T
|
snv |
|
2.3E-02
|
0.040 |
0.750 |
4 |
2012 |
2016 |
rs121913238
|
|
17
|
0.732 |
0.240 |
12 |
25227343 |
missense variant
|
G/C;T
|
snv |
|
|
0.700 |
1.000 |
4 |
2007 |
2013 |
rs121913240
|
|
24
|
0.672 |
0.440 |
12 |
25227342 |
missense variant
|
T/A;C;G
|
snv |
|
|
0.700 |
1.000 |
4 |
2007 |
2013 |
rs121913530
|
|
63
|
0.583 |
0.640 |
12 |
25245351 |
missense variant
|
C/A;G;T
|
snv |
|
|
0.700 |
1.000 |
4 |
2007 |
2013 |
rs121913535
|
|
14
|
0.742 |
0.320 |
12 |
25245348 |
missense variant
|
C/A;G;T
|
snv |
|
|
0.700 |
1.000 |
4 |
2007 |
2013 |
rs1057519725
|
|
6
|
0.851 |
0.320 |
12 |
25225627 |
missense variant
|
G/A
|
snv |
|
7.0E-06
|
0.700 |
1.000 |
3 |
2009 |
2013 |
rs11554290
|
|
59
|
0.583 |
0.600 |
1 |
114713908 |
missense variant
|
T/A;C;G
|
snv |
|
|
0.720 |
1.000 |
3 |
2016 |
2017 |
rs2439302
|
|
9
|
0.776 |
0.200 |
8 |
32574851 |
intron variant
|
G/C
|
snv |
|
0.54
|
0.030 |
1.000 |
3 |
2012 |
2015 |
rs10069690
|
|
53
|
0.595 |
0.560 |
5 |
1279675 |
intron variant
|
C/T
|
snv |
|
0.36
|
0.020 |
1.000 |
2 |
2016 |
2019 |
rs1057519695
|
|
35
|
0.641 |
0.520 |
1 |
114713907 |
missense variant
|
TT/CA;CC
|
mnv |
|
|
0.020 |
1.000 |
2 |
2016 |
2017 |
rs1057519834
|
|
31
|
0.658 |
0.480 |
1 |
114713908 |
missense variant
|
TG/CT
|
mnv |
|
|
0.020 |
1.000 |
2 |
2016 |
2017 |
rs1131691014
|
|
214
|
0.439 |
0.800 |
17 |
7676154 |
frameshift variant
|
-/C
|
ins |
|
|
0.020 |
0.500 |
2 |
2014 |
2015 |
rs2736100
|
|
83
|
0.550 |
0.880 |
5 |
1286401 |
3 prime UTR variant
|
C/A
|
snv |
|
0.52
|
0.020 |
1.000 |
2 |
2016 |
2019 |
rs397517132
|
|
48
|
0.623 |
0.280 |
7 |
55191846 |
missense variant
|
A/T
|
snv |
|
|
0.020 |
0.500 |
2 |
2013 |
2017 |
rs71369530
|
|
4
|
0.851 |
0.080 |
9 |
97854419 |
inframe insertion
|
GCCGCCGCCGCCGCCGCCGCCGCC/-;GCC;GCCGCC;GCCGCCGCC;GCCGCCGCCGCC;GCCGCCGCCGCCGCC;GCCGCCGCCGCCGCCGCC;GCCGCCGCCGCCGCCGCCGCC;GCCGCCGCCGCCGCCGCCGCCGCCGCC;GCCGCCGCCGCCGCCGCCGCCGCCGCCGCC;GCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC;GCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC;GCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC
|
delins |
|
0.68
|
0.020 |
1.000 |
2 |
2014 |
2014 |