rs1131691014
|
|
214
|
0.439 |
0.800 |
17 |
7676154 |
frameshift variant
|
-/C
|
ins |
|
|
0.080 |
0.875 |
8 |
1999 |
2014 |
rs878854066
|
|
213
|
0.439 |
0.800 |
17 |
7676153 |
missense variant
|
GG/AC
|
mnv |
|
|
0.080 |
0.875 |
8 |
1999 |
2014 |
rs1057519847
|
|
72
|
0.570 |
0.560 |
7 |
55191821 |
missense variant
|
CT/AG
|
mnv |
|
|
0.040 |
1.000 |
4 |
2013 |
2016 |
rs1057519848
|
|
72
|
0.570 |
0.560 |
7 |
55191822 |
missense variant
|
TG/GT
|
mnv |
|
|
0.040 |
1.000 |
4 |
2013 |
2016 |
rs121434568
|
|
73
|
0.568 |
0.560 |
7 |
55191822 |
missense variant
|
T/A;G
|
snv |
|
|
0.040 |
1.000 |
4 |
2013 |
2016 |
rs12203592
|
|
38
|
0.649 |
0.320 |
6 |
396321 |
intron variant
|
C/T
|
snv |
|
0.10
|
0.710 |
1.000 |
3 |
2011 |
2019 |
rs267598140
|
|
3
|
0.925 |
0.080 |
1 |
162778600 |
missense variant
|
T/A;G
|
snv |
|
|
0.700 |
1.000 |
3 |
2008 |
2013 |
rs397507444
|
|
306
|
0.405 |
0.880 |
1 |
11794407 |
missense variant
|
T/G
|
snv |
|
|
0.030 |
1.000 |
3 |
2007 |
2018 |
rs401681
|
|
42
|
0.620 |
0.640 |
5 |
1321972 |
intron variant
|
C/T
|
snv |
|
0.48
|
0.030 |
1.000 |
3 |
2011 |
2014 |
rs2736100
|
|
83
|
0.550 |
0.880 |
5 |
1286401 |
3 prime UTR variant
|
C/A
|
snv |
|
0.52
|
0.020 |
1.000 |
2 |
2009 |
2010 |
rs10455872
|
|
33
|
0.662 |
0.320 |
6 |
160589086 |
intron variant
|
A/G
|
snv |
|
4.3E-02
|
0.700 |
1.000 |
1 |
2012 |
2012 |
rs1048638
|
|
10
|
0.807 |
0.160 |
9 |
35681125 |
3 prime UTR variant
|
C/A;G
|
snv |
|
|
0.010 |
1.000 |
1 |
2018 |
2018 |
rs10491121
|
|
5
|
0.882 |
0.120 |
17 |
36102943 |
upstream gene variant
|
G/A
|
snv |
|
0.32
|
0.010 |
1.000 |
1 |
2017 |
2017 |
rs1057519824
|
|
10
|
0.807 |
0.120 |
7 |
116783374 |
missense variant
|
T/G
|
snv |
|
|
0.010 |
1.000 |
1 |
2003 |
2003 |
rs1057519911
|
|
10
|
0.776 |
0.160 |
22 |
21772875 |
missense variant
|
C/T
|
snv |
|
|
0.010 |
1.000 |
1 |
2012 |
2012 |
rs1057520001
|
|
23
|
0.677 |
0.360 |
17 |
7674886 |
missense variant
|
A/C;G
|
snv |
|
|
0.010 |
1.000 |
1 |
2007 |
2007 |
rs1057520004
|
|
12
|
0.752 |
0.240 |
17 |
7674884 |
missense variant
|
A/C;T
|
snv |
|
|
0.010 |
1.000 |
1 |
1993 |
1993 |
rs1057520018
|
|
6
|
0.807 |
0.080 |
19 |
1223124 |
missense variant
|
T/C
|
snv |
|
|
0.010 |
1.000 |
1 |
2009 |
2009 |
rs1057520039
|
|
4
|
0.882 |
0.200 |
19 |
1207169 |
stop gained
|
C/G;T
|
snv |
|
|
0.010 |
1.000 |
1 |
2009 |
2009 |
rs1064793400
|
|
1
|
1.000 |
0.040 |
3 |
37048550 |
missense variant
|
G/A
|
snv |
|
|
0.010 |
1.000 |
1 |
2015 |
2015 |
rs1064793981
|
|
1
|
1.000 |
0.040 |
2 |
47475030 |
missense variant
|
G/A
|
snv |
|
|
0.010 |
1.000 |
1 |
2015 |
2015 |
rs10759637
|
|
2
|
1.000 |
0.040 |
9 |
113262744 |
3 prime UTR variant
|
A/C
|
snv |
|
0.47
|
0.010 |
1.000 |
1 |
2018 |
2018 |
rs1078305
|
|
1
|
1.000 |
0.040 |
9 |
121289122 |
intron variant
|
A/G
|
snv |
|
0.70
|
0.010 |
1.000 |
1 |
2016 |
2016 |
rs10810657
|
|
7
|
0.827 |
0.080 |
9 |
16884588 |
regulatory region variant
|
T/A;G
|
snv |
|
|
0.700 |
1.000 |
1 |
2019 |
2019 |
rs10817938
|
|
5
|
0.882 |
0.080 |
9 |
97700127 |
non coding transcript exon variant
|
T/C
|
snv |
|
3.2E-02
|
0.010 |
1.000 |
1 |
2016 |
2016 |