rs1297812518
|
|
9
|
0.763 |
0.160 |
14 |
103707168 |
missense variant
|
G/A
|
snv |
1.3E-05
|
1.4E-05
|
0.010 |
< 0.001 |
1 |
2014 |
2014 |
rs1042522
|
|
242
|
0.426 |
0.800 |
17 |
7676154 |
missense variant
|
G/C;T
|
snv |
0.67
|
|
0.020 |
0.500 |
2 |
2014 |
2015 |
rs1131691014
|
|
214
|
0.439 |
0.800 |
17 |
7676154 |
frameshift variant
|
-/C
|
ins |
|
|
0.020 |
0.500 |
2 |
2014 |
2015 |
rs397517132
|
|
48
|
0.623 |
0.280 |
7 |
55191846 |
missense variant
|
A/T
|
snv |
|
|
0.020 |
0.500 |
2 |
2013 |
2017 |
rs861539
|
|
104
|
0.519 |
0.680 |
14 |
103699416 |
missense variant
|
G/A
|
snv |
0.29
|
0.30
|
0.020 |
0.500 |
2 |
2009 |
2015 |
rs878854066
|
|
213
|
0.439 |
0.800 |
17 |
7676153 |
missense variant
|
GG/AC
|
mnv |
|
|
0.020 |
0.500 |
2 |
2014 |
2015 |
rs1799782
|
|
151
|
0.474 |
0.800 |
19 |
43553422 |
missense variant
|
G/A
|
snv |
9.5E-02
|
7.0E-02
|
0.060 |
0.667 |
6 |
2012 |
2019 |
rs116909374
|
|
11
|
0.776 |
0.120 |
14 |
36269155 |
regulatory region variant
|
C/T
|
snv |
|
2.3E-02
|
0.040 |
0.750 |
4 |
2012 |
2016 |
rs25487
|
|
205
|
0.441 |
0.800 |
19 |
43551574 |
missense variant
|
T/C
|
snv |
0.68
|
0.71
|
0.040 |
0.750 |
4 |
2012 |
2019 |
rs25489
|
|
78
|
0.550 |
0.720 |
19 |
43552260 |
missense variant
|
C/G;T
|
snv |
8.5E-06;
7.1E-02
|
|
0.040 |
0.750 |
4 |
2012 |
2019 |
rs121913377
|
|
480
|
0.354 |
0.840 |
7 |
140753335 |
missense variant
|
CA/AT;TT
|
mnv |
|
|
0.100 |
0.986 |
72 |
2004 |
2019 |
rs113488022
|
|
490
|
0.351 |
0.840 |
7 |
140753336 |
missense variant
|
A/C;G;T
|
snv |
4.0E-06
|
|
0.100 |
0.986 |
74 |
2004 |
2019 |
rs965513
|
|
15
|
0.742 |
0.200 |
9 |
97793827 |
intron variant
|
A/G;T
|
snv |
|
|
0.060 |
1.000 |
6 |
2012 |
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 |
rs1217691063
|
|
614
|
0.330 |
0.920 |
1 |
11796309 |
missense variant
|
A/G
|
snv |
4.0E-06
|
7.0E-06
|
0.040 |
1.000 |
4 |
2014 |
2018 |
rs7080536
|
|
27
|
0.683 |
0.360 |
10 |
113588287 |
missense variant
|
G/A
|
snv |
2.2E-02
|
2.4E-02
|
0.040 |
1.000 |
4 |
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 |
rs1136410
|
|
70
|
0.559 |
0.760 |
1 |
226367601 |
missense variant
|
A/G
|
snv |
0.21
|
0.15
|
0.020 |
1.000 |
2 |
2012 |
2018 |
rs17879961
|
|
53
|
0.597 |
0.480 |
22 |
28725099 |
missense variant
|
A/C;G
|
snv |
4.1E-03
|
|
0.020 |
1.000 |
2 |
2004 |
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 |
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 |
rs74799832
|
|
33
|
0.662 |
0.280 |
10 |
43121968 |
missense variant
|
T/C
|
snv |
4.0E-06
|
|
0.020 |
1.000 |
2 |
2015 |
2018 |