rs2292832
|
|
46
|
0.605 |
0.640 |
2 |
240456086 |
non coding transcript exon variant
|
T/A;C
|
snv |
0.59
|
|
0.030 |
1.000 |
3 |
2012 |
2019 |
rs1130409
|
|
72
|
0.555 |
0.720 |
14 |
20456995 |
missense variant
|
T/A;C;G
|
snv |
4.0E-06;
4.0E-06;
0.42
|
|
0.020 |
0.500 |
2 |
2015 |
2015 |
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 |
2013 |
2013 |
rs11479
|
|
2
|
0.925 |
0.080 |
22 |
50525807 |
stop gained
|
G/A;C;T
|
snv |
0.13;
1.3E-05;
4.3E-06
|
|
0.010 |
1.000 |
1 |
2014 |
2014 |
rs11896604
|
|
8
|
0.776 |
0.200 |
2 |
54252062 |
intron variant
|
C/A;G;T
|
snv |
|
|
0.010 |
1.000 |
1 |
2019 |
2019 |
rs121913500
|
|
96
|
0.529 |
0.600 |
2 |
208248388 |
missense variant
|
C/A;G;T
|
snv |
4.0E-06
|
|
0.010 |
1.000 |
1 |
2016 |
2016 |
rs1447295
|
|
29
|
0.658 |
0.400 |
8 |
127472793 |
intron variant
|
A/C;T
|
snv |
|
|
0.010 |
< 0.001 |
1 |
2017 |
2017 |
rs17224367
|
|
3
|
0.882 |
0.160 |
2 |
47429833 |
missense variant
|
C/G;T
|
snv |
1.5E-03
|
|
0.010 |
1.000 |
1 |
2006 |
2006 |
rs17868323
|
|
2
|
0.925 |
0.160 |
2 |
233682324 |
missense variant
|
T/A;G
|
snv |
0.59
|
|
0.010 |
1.000 |
1 |
2002 |
2002 |
rs17879961
|
|
53
|
0.597 |
0.480 |
22 |
28725099 |
missense variant
|
A/C;G
|
snv |
4.1E-03
|
|
0.010 |
1.000 |
1 |
2008 |
2008 |
rs2839698
|
|
25
|
0.662 |
0.520 |
11 |
1997623 |
non coding transcript exon variant
|
G/A
|
snv |
0.41
|
|
0.010 |
1.000 |
1 |
2017 |
2017 |
rs386656364
|
|
8
|
0.807 |
0.160 |
2 |
233682328 |
missense variant
|
CG/AA
|
mnv |
|
|
0.010 |
1.000 |
1 |
2002 |
2002 |
rs587778964
|
|
4
|
0.882 |
0.160 |
3 |
37048604 |
missense variant
|
A/C;T
|
snv |
|
|
0.010 |
1.000 |
1 |
2006 |
2006 |
rs63750006
|
|
3
|
0.882 |
0.160 |
2 |
47429920 |
stop gained
|
C/A;G;T
|
snv |
5.5E-04;
4.0E-06
|
|
0.010 |
1.000 |
1 |
2006 |
2006 |
rs63750070
|
|
3
|
0.882 |
0.160 |
2 |
47410245 |
missense variant
|
T/C;G
|
snv |
|
|
0.010 |
1.000 |
1 |
2006 |
2006 |
rs63750114
|
|
5
|
0.827 |
0.160 |
3 |
37049015 |
stop gained
|
C/A;T
|
snv |
4.9E-04
|
|
0.010 |
1.000 |
1 |
2007 |
2007 |
rs63750228
|
|
1
|
1.000 |
0.080 |
2 |
47429926 |
missense variant
|
C/A;G
|
snv |
4.0E-06
|
|
0.010 |
1.000 |
1 |
2006 |
2006 |
rs63751067
|
|
1
|
1.000 |
0.080 |
2 |
47410244 |
frameshift variant
|
CTAGGACTGTGT/A
|
delins |
|
|
0.010 |
1.000 |
1 |
2006 |
2006 |
rs6505162
|
|
25
|
0.695 |
0.320 |
17 |
30117165 |
5 prime UTR variant
|
A/C;T
|
snv |
0.50;
3.1E-05
|
|
0.010 |
1.000 |
1 |
2019 |
2019 |
rs760043106
|
|
32
|
0.645 |
0.440 |
17 |
7674947 |
missense variant
|
A/C;G;T
|
snv |
|
|
0.010 |
1.000 |
1 |
2008 |
2008 |
rs771314938
|
|
8
|
0.807 |
0.160 |
2 |
233682328 |
frameshift variant
|
CG/-
|
del |
|
|
0.010 |
1.000 |
1 |
2002 |
2002 |
rs876661188
|
|
1
|
1.000 |
0.080 |
3 |
37050573 |
missense variant
|
C/T
|
snv |
|
|
0.010 |
1.000 |
1 |
2006 |
2006 |
rs879625015
|
|
8
|
0.807 |
0.160 |
2 |
233682328 |
frameshift variant
|
CG/A
|
delins |
|
|
0.010 |
1.000 |
1 |
2002 |
2002 |
rs63750447
|
|
17
|
0.716 |
0.200 |
3 |
37025749 |
missense variant
|
T/A
|
snv |
2.7E-03
|
7.5E-04
|
0.020 |
0.500 |
2 |
2007 |
2019 |
rs671
|
|
116
|
0.529 |
0.840 |
12 |
111803962 |
missense variant
|
G/A
|
snv |
1.9E-02
|
5.8E-03
|
0.010 |
1.000 |
1 |
2015 |
2015 |