rs6773854
|
|
2
|
1.000 |
0.120 |
3 |
187931631 |
downstream gene variant
|
T/C
|
snv |
|
0.23
|
0.800 |
1.000 |
1 |
2013 |
2013 |
rs4073
|
|
64
|
0.566 |
0.800 |
4 |
73740307 |
upstream gene variant
|
A/T
|
snv |
|
0.46
|
0.010 |
1.000 |
1 |
2014 |
2014 |
rs387907272
|
|
73
|
0.572 |
0.520 |
3 |
38141150 |
stop lost
|
T/C
|
snv |
5.2E-05
|
7.0E-06
|
0.100 |
0.917 |
12 |
2013 |
2019 |
rs2647045
|
|
1
|
|
|
6 |
32700323 |
TF binding site variant
|
G/A
|
snv |
|
0.27
|
0.800 |
1.000 |
1 |
2013 |
2013 |
rs10190751
|
|
4
|
0.882 |
0.120 |
2 |
201141373 |
splice acceptor variant
|
G/A
|
snv |
0.18
|
0.26
|
0.010 |
1.000 |
1 |
2009 |
2009 |
rs1131691014
|
|
214
|
0.439 |
0.800 |
17 |
7676154 |
frameshift variant
|
-/C
|
ins |
|
|
0.010 |
1.000 |
1 |
2012 |
2012 |
rs555607708
|
|
33
|
0.667 |
0.360 |
22 |
28695869 |
frameshift variant
|
G/-
|
del |
2.0E-03
|
1.8E-03
|
0.700 |
|
0 |
|
|
rs63750250
|
|
9
|
0.807 |
0.280 |
7 |
5986933 |
frameshift variant
|
-/T
|
delins |
1.6E-05
|
4.2E-05
|
0.700 |
|
0 |
|
|
rs1042752
|
|
3
|
0.925 |
0.120 |
11 |
111352386 |
3 prime UTR variant
|
A/G
|
snv |
|
0.39
|
0.010 |
1.000 |
1 |
2017 |
2017 |
rs1800872
|
|
119
|
0.495 |
0.840 |
1 |
206773062 |
5 prime UTR variant
|
T/G
|
snv |
|
0.69
|
0.020 |
1.000 |
2 |
2008 |
2010 |
rs1800871
|
|
108
|
0.508 |
0.800 |
1 |
206773289 |
5 prime UTR variant
|
A/G
|
snv |
|
0.69
|
0.010 |
1.000 |
1 |
2010 |
2010 |
rs1800975
|
|
19
|
0.701 |
0.360 |
9 |
97697296 |
5 prime UTR variant
|
T/C;G
|
snv |
0.63;
4.5E-06;
4.5E-06
|
|
0.010 |
< 0.001 |
1 |
2013 |
2013 |
rs1883832
|
|
52
|
0.581 |
0.680 |
20 |
46118343 |
5 prime UTR variant
|
T/C
|
snv |
0.75
|
0.80
|
0.010 |
1.000 |
1 |
2008 |
2008 |
rs1802710
|
|
3
|
|
|
14 |
100734308 |
synonymous variant
|
T/A;C
|
snv |
0.63
|
|
0.010 |
1.000 |
1 |
2004 |
2004 |
rs2304240
|
|
4
|
0.882 |
0.200 |
19 |
10338716 |
synonymous variant
|
A/G
|
snv |
0.81
|
0.85
|
0.010 |
1.000 |
1 |
2011 |
2011 |
rs12289961
|
|
1
|
|
|
11 |
58292720 |
non coding transcript exon variant
|
C/T
|
snv |
|
0.28
|
0.800 |
1.000 |
1 |
2013 |
2013 |
rs2231231
|
|
5
|
0.851 |
0.240 |
9 |
33442988 |
non coding transcript exon variant
|
A/C
|
snv |
0.67
|
0.69
|
0.010 |
1.000 |
1 |
2018 |
2018 |
rs28362491
|
|
56
|
0.592 |
0.720 |
4 |
102500998 |
non coding transcript exon variant
|
ATTG/-
|
delins |
|
|
0.010 |
1.000 |
1 |
2017 |
2017 |
rs3099844
|
|
13
|
0.732 |
0.400 |
6 |
31481199 |
non coding transcript exon variant
|
C/A
|
snv |
|
0.11
|
0.010 |
1.000 |
1 |
2019 |
2019 |
rs397507444
|
|
306
|
0.405 |
0.880 |
1 |
11794407 |
missense variant
|
T/G
|
snv |
|
|
0.050 |
1.000 |
5 |
2004 |
2017 |
rs2230926
|
|
27
|
0.662 |
0.440 |
6 |
137874929 |
missense variant
|
T/C;G
|
snv |
4.0E-06;
5.4E-02
|
|
0.040 |
1.000 |
4 |
2013 |
2019 |
rs267601394
|
|
8
|
0.807 |
0.200 |
7 |
148811635 |
missense variant
|
T/A;G
|
snv |
|
|
0.720 |
1.000 |
4 |
2012 |
2016 |
rs113488022
|
|
490
|
0.351 |
0.840 |
7 |
140753336 |
missense variant
|
A/C;G;T
|
snv |
4.0E-06
|
|
0.030 |
1.000 |
3 |
2012 |
2015 |
rs1217691063
|
|
614
|
0.330 |
0.920 |
1 |
11796309 |
missense variant
|
A/G
|
snv |
4.0E-06
|
7.0E-06
|
0.030 |
1.000 |
3 |
2004 |
2017 |
rs121913377
|
|
480
|
0.354 |
0.840 |
7 |
140753335 |
missense variant
|
CA/AT;TT
|
mnv |
|
|
0.030 |
1.000 |
3 |
2012 |
2015 |