rs104895105
|
|
7
|
0.851 |
0.120 |
16 |
3247171 |
missense variant
|
G/A
|
snv |
|
|
0.010 |
1.000 |
1 |
2004 |
2004 |
rs104895193
|
|
1
|
1.000 |
0.040 |
16 |
3244284 |
missense variant
|
T/A
|
snv |
|
|
0.010 |
1.000 |
1 |
2014 |
2014 |
rs10735810
|
|
26
|
0.662 |
0.640 |
12 |
47879112 |
start lost
|
A/C;G;T
|
snv |
|
|
0.010 |
1.000 |
1 |
2016 |
2016 |
rs1274043842
|
|
1
|
1.000 |
0.040 |
16 |
3248950 |
missense variant
|
C/T
|
snv |
|
7.0E-06
|
0.010 |
1.000 |
1 |
2017 |
2017 |
rs1289543302
|
|
12
|
0.763 |
0.440 |
7 |
87536472 |
missense variant
|
C/T
|
snv |
|
|
0.010 |
1.000 |
1 |
2014 |
2014 |
rs141829974
|
|
1
|
1.000 |
0.040 |
9 |
121037923 |
synonymous variant
|
G/A
|
snv |
2.6E-04
|
8.0E-04
|
0.010 |
1.000 |
1 |
2010 |
2010 |
rs1544410
|
|
78
|
0.542 |
0.760 |
12 |
47846052 |
intron variant
|
C/A;G;T
|
snv |
|
|
0.010 |
1.000 |
1 |
2016 |
2016 |
rs190405488
|
|
1
|
1.000 |
0.040 |
16 |
3249609 |
missense variant
|
C/G
|
snv |
2.0E-05
|
|
0.010 |
1.000 |
1 |
2015 |
2015 |
rs2032582
|
|
97
|
0.538 |
0.800 |
7 |
87531302 |
missense variant
|
A/C;T
|
snv |
0.54;
3.8E-02
|
|
0.010 |
1.000 |
1 |
2014 |
2014 |
rs2234663
|
|
14
|
0.716 |
0.480 |
2 |
113130529 |
intron variant
|
ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC/-;ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC;ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC;ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC
|
delins |
|
|
0.010 |
< 0.001 |
1 |
2016 |
2016 |
rs368859219
|
|
1
|
1.000 |
0.040 |
6 |
137881228 |
missense variant
|
G/A;T
|
snv |
7.4E-05;
8.2E-06
|
|
0.010 |
1.000 |
1 |
2020 |
2020 |
rs4804049
|
|
1
|
1.000 |
0.040 |
19 |
47320227 |
synonymous variant
|
T/A;C
|
snv |
4.0E-06;
0.99
|
|
0.010 |
1.000 |
1 |
2010 |
2010 |
rs662
|
|
157
|
0.485 |
0.840 |
7 |
95308134 |
missense variant
|
T/C
|
snv |
0.38
|
0.42
|
0.010 |
1.000 |
1 |
2014 |
2014 |
rs731236
|
|
81
|
0.542 |
0.760 |
12 |
47844974 |
synonymous variant
|
A/G
|
snv |
0.33
|
0.34
|
0.010 |
1.000 |
1 |
2016 |
2016 |
rs75977701
|
|
1
|
1.000 |
0.040 |
16 |
3254158 |
missense variant
|
C/T
|
snv |
4.6E-03
|
3.2E-03
|
0.010 |
1.000 |
1 |
2012 |
2012 |
rs763110
|
|
30
|
0.653 |
0.560 |
1 |
172658358 |
upstream gene variant
|
C/T
|
snv |
|
0.49
|
0.010 |
1.000 |
1 |
2017 |
2017 |
rs767006697
|
|
2
|
0.925 |
0.080 |
16 |
3254658 |
frameshift variant
|
C/-
|
delins |
|
|
0.010 |
< 0.001 |
1 |
2001 |
2001 |
rs7975232
|
|
56
|
0.576 |
0.760 |
12 |
47845054 |
intron variant
|
C/A
|
snv |
0.51
|
0.55
|
0.010 |
1.000 |
1 |
2016 |
2016 |
rs995922697
|
|
15
|
0.724 |
0.560 |
3 |
49357413 |
missense variant
|
A/G
|
snv |
4.1E-06
|
|
0.010 |
1.000 |
1 |
2014 |
2014 |
rs1128503
|
|
64
|
0.564 |
0.760 |
7 |
87550285 |
synonymous variant
|
A/G
|
snv |
0.54
|
0.63
|
0.020 |
1.000 |
2 |
2011 |
2014 |
rs1440063914
|
|
2
|
0.925 |
0.080 |
2 |
8779781 |
missense variant
|
T/C
|
snv |
|
|
0.020 |
1.000 |
2 |
2001 |
2004 |
rs4149584
|
|
24
|
0.683 |
0.440 |
12 |
6333477 |
missense variant
|
C/G;T
|
snv |
4.0E-06;
1.3E-02
|
|
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 |
2009 |
2011 |
rs4986791
|
|
182
|
0.456 |
0.840 |
9 |
117713324 |
missense variant
|
C/T
|
snv |
5.7E-02
|
4.9E-02
|
0.020 |
1.000 |
2 |
2009 |
2011 |
rs79071878
|
|
7
|
0.827 |
0.240 |
5 |
132680652 |
intron variant
|
ATGAAGCAAGATGGCCTGTTGGGAGGCTACCACAGTAAACCAGGCTAGAGACGATGGTGGCGTGGACAGAATGAAGCAAGATGGCCTGTTGGGAGGCTACCACAGTAAACCAGGCTAGAGATGATGGTGGCGTGGACAGAAT/-
|
del |
|
|
0.020 |
< 0.001 |
2 |
2016 |
2018 |