rs10009228
|
|
1
|
|
|
4 |
40354405 |
missense variant
|
A/G
|
snv |
0.78
|
0.76
|
0.010 |
1.000 |
1 |
2012 |
2012 |
rs2073778
|
|
1
|
|
|
22 |
20087052 |
non coding transcript exon variant
|
C/T
|
snv |
|
0.12
|
0.010 |
1.000 |
1 |
2013 |
2013 |
rs720012
|
|
1
|
|
|
22 |
20111059 |
3 prime UTR variant
|
G/A
|
snv |
|
0.12
|
0.010 |
1.000 |
1 |
2013 |
2013 |
rs1057519771
|
|
2
|
1.000 |
0.080 |
9 |
130872201 |
missense variant
|
G/C
|
snv |
|
|
0.010 |
1.000 |
1 |
2019 |
2019 |
rs587782148
|
|
2
|
|
|
17 |
7676113 |
missense variant
|
C/T
|
snv |
|
|
0.010 |
1.000 |
1 |
2007 |
2007 |
rs762807774
|
|
2
|
1.000 |
0.040 |
1 |
1228495 |
frameshift variant
|
CGCGGCTCCGC/-;CGCGGCTCCGCCGCGGCTCCGC
|
delins |
|
7.0E-06
|
0.010 |
1.000 |
1 |
2018 |
2018 |
rs11672691
|
|
3
|
0.925 |
0.080 |
19 |
41479679 |
non coding transcript exon variant
|
G/A
|
snv |
|
0.42
|
0.010 |
1.000 |
1 |
2018 |
2018 |
rs557263543
|
|
3
|
|
|
8 |
38412508 |
3 prime UTR variant
|
C/T
|
snv |
|
|
0.010 |
1.000 |
1 |
2016 |
2016 |
rs55958994
|
|
3
|
0.925 |
0.080 |
12 |
52907235 |
intron variant
|
C/T
|
snv |
|
0.12
|
0.010 |
1.000 |
1 |
2019 |
2019 |
rs961150162
|
|
3
|
|
|
7 |
55198779 |
missense variant
|
G/A;C
|
snv |
|
|
0.010 |
1.000 |
1 |
2016 |
2016 |
rs969139366
|
|
3
|
|
|
4 |
54277974 |
missense variant
|
T/C
|
snv |
|
3.5E-05
|
0.010 |
1.000 |
1 |
2017 |
2017 |
rs438034
|
|
4
|
0.882 |
0.120 |
1 |
214657274 |
stop gained
|
A/G;T
|
snv |
0.61
|
|
0.010 |
1.000 |
1 |
2011 |
2011 |
rs1288373809
|
|
5
|
0.882 |
0.120 |
17 |
7673255 |
synonymous variant
|
G/A
|
snv |
5.3E-06
|
|
0.010 |
< 0.001 |
1 |
2009 |
2009 |
rs201216664
|
|
5
|
0.851 |
0.080 |
17 |
51171503 |
missense variant
|
A/G
|
snv |
|
|
0.010 |
1.000 |
1 |
1995 |
1995 |
rs1443465532
|
|
6
|
0.882 |
0.080 |
6 |
43774362 |
missense variant
|
G/C
|
snv |
4.0E-06
|
7.0E-06
|
0.010 |
1.000 |
1 |
2002 |
2002 |
rs200863613
|
|
6
|
0.925 |
0.080 |
9 |
21971061 |
missense variant
|
C/A;T
|
snv |
8.5E-05
|
3.7E-04
|
0.010 |
1.000 |
1 |
2017 |
2017 |
rs7121
|
|
6
|
0.882 |
0.160 |
20 |
58903752 |
missense variant
|
C/G;T
|
snv |
0.54
|
|
0.010 |
1.000 |
1 |
2019 |
2019 |
rs773862672
|
|
6
|
0.882 |
0.280 |
1 |
11247922 |
missense variant
|
G/A;C
|
snv |
1.2E-05
|
|
0.010 |
1.000 |
1 |
2014 |
2014 |
rs587782529
|
|
8
|
0.851 |
0.200 |
17 |
7670700 |
missense variant
|
G/A;C
|
snv |
|
|
0.010 |
1.000 |
1 |
1998 |
1998 |
rs1418810723
|
|
9
|
0.851 |
0.080 |
2 |
215409981 |
missense variant
|
A/T
|
snv |
8.0E-06
|
|
0.010 |
1.000 |
1 |
2011 |
2011 |
rs2016347
|
|
9
|
0.790 |
0.160 |
15 |
98960571 |
3 prime UTR variant
|
G/A;T
|
snv |
|
|
0.010 |
1.000 |
1 |
2014 |
2014 |
rs767808984
|
|
9
|
0.851 |
0.160 |
14 |
36520098 |
missense variant
|
C/G;T
|
snv |
1.3E-05
|
|
0.010 |
1.000 |
1 |
2012 |
2012 |
rs121917887
|
|
10
|
0.790 |
0.120 |
17 |
51161744 |
missense variant
|
A/G
|
snv |
6.0E-05
|
7.0E-05
|
0.010 |
1.000 |
1 |
1995 |
1995 |
rs137852578
|
|
10
|
0.827 |
0.080 |
X |
67723710 |
missense variant
|
A/G
|
snv |
|
|
0.010 |
1.000 |
1 |
2002 |
2002 |
rs17217772
|
|
10
|
0.790 |
0.240 |
2 |
47410107 |
missense variant
|
A/C;G;T
|
snv |
5.8E-03
|
|
0.010 |
1.000 |
1 |
2005 |
2005 |