rs121913377
|
|
480
|
0.354 |
0.840 |
7 |
140753335 |
missense variant
|
CA/AT;TT
|
mnv |
|
|
0.100 |
0.946 |
465 |
2003 |
2020 |
rs1057519847
|
|
72
|
0.570 |
0.560 |
7 |
55191821 |
missense variant
|
CT/AG
|
mnv |
|
|
0.100 |
0.933 |
60 |
2009 |
2019 |
rs1057519848
|
|
72
|
0.570 |
0.560 |
7 |
55191822 |
missense variant
|
TG/GT
|
mnv |
|
|
0.100 |
0.933 |
60 |
2009 |
2019 |
rs121434568
|
|
73
|
0.568 |
0.560 |
7 |
55191822 |
missense variant
|
T/A;G
|
snv |
|
|
0.100 |
0.933 |
60 |
2009 |
2019 |
rs397517132
|
|
48
|
0.623 |
0.280 |
7 |
55191846 |
missense variant
|
A/T
|
snv |
|
|
0.100 |
0.967 |
30 |
2011 |
2019 |
rs1131691014
|
|
214
|
0.439 |
0.800 |
17 |
7676154 |
frameshift variant
|
-/C
|
ins |
|
|
0.100 |
0.966 |
29 |
2003 |
2018 |
rs878854066
|
|
213
|
0.439 |
0.800 |
17 |
7676153 |
missense variant
|
GG/AC
|
mnv |
|
|
0.100 |
0.966 |
29 |
2003 |
2018 |
rs112445441
|
|
32
|
0.658 |
0.400 |
12 |
25245347 |
missense variant
|
C/A;G;T
|
snv |
|
|
0.100 |
0.947 |
19 |
2005 |
2019 |
rs1057519865
|
|
15
|
0.742 |
0.240 |
3 |
138946321 |
missense variant
|
G/C
|
snv |
|
|
0.100 |
0.933 |
15 |
2009 |
2020 |
rs121913530
|
|
63
|
0.583 |
0.640 |
12 |
25245351 |
missense variant
|
C/A;G;T
|
snv |
|
|
0.100 |
1.000 |
15 |
2011 |
2019 |
rs104894230
|
|
73
|
0.564 |
0.600 |
11 |
534288 |
missense variant
|
C/A;G;T
|
snv |
|
|
0.100 |
1.000 |
13 |
2010 |
2019 |
rs727503094
|
|
41
|
0.633 |
0.440 |
11 |
534287 |
missense variant
|
GC/AG;AT;TA;TT
|
mnv |
|
|
0.100 |
1.000 |
13 |
2010 |
2019 |
rs11554290
|
|
59
|
0.583 |
0.600 |
1 |
114713908 |
missense variant
|
T/A;C;G
|
snv |
|
|
0.100 |
1.000 |
12 |
2011 |
2019 |
rs121913682
|
|
52
|
0.605 |
0.400 |
4 |
54733167 |
missense variant
|
A/G;T
|
snv |
|
|
0.100 |
1.000 |
12 |
2005 |
2018 |
rs1463038513
|
|
36
|
0.658 |
0.440 |
5 |
112839511 |
frameshift variant
|
TAAA/-
|
delins |
|
|
0.100 |
0.917 |
12 |
1998 |
2013 |
rs1057519695
|
|
35
|
0.641 |
0.520 |
1 |
114713907 |
missense variant
|
TT/CA;CC
|
mnv |
|
|
0.100 |
1.000 |
11 |
2011 |
2019 |
rs1057519903
|
|
28
|
0.683 |
0.080 |
1 |
226064434 |
missense variant
|
A/T
|
snv |
|
|
0.100 |
1.000 |
11 |
2013 |
2019 |
rs121913507
|
|
49
|
0.614 |
0.400 |
4 |
54733155 |
missense variant
|
A/T
|
snv |
|
|
0.100 |
1.000 |
11 |
2005 |
2018 |
rs397507444
|
|
306
|
0.405 |
0.880 |
1 |
11794407 |
missense variant
|
T/G
|
snv |
|
|
0.100 |
0.900 |
10 |
2002 |
2016 |
rs1057519834
|
|
31
|
0.658 |
0.480 |
1 |
114713908 |
missense variant
|
TG/CT
|
mnv |
|
|
0.090 |
1.000 |
9 |
2011 |
2019 |
rs1444669684
|
|
36
|
0.658 |
0.480 |
9 |
21994285 |
missense variant
|
C/A;T
|
snv |
|
|
0.090 |
0.889 |
9 |
2006 |
2018 |
rs281864719
|
|
14
|
0.763 |
0.240 |
2 |
29220831 |
missense variant
|
A/C;G;T
|
snv |
|
|
0.080 |
1.000 |
8 |
2010 |
2016 |
rs6983267
|
|
62
|
0.578 |
0.440 |
8 |
127401060 |
non coding transcript exon variant
|
G/T
|
snv |
|
0.37
|
0.080 |
0.875 |
8 |
2009 |
2018 |
rs863225281
|
|
12
|
0.776 |
0.200 |
2 |
29220829 |
missense variant
|
G/C;T
|
snv |
|
|
0.080 |
1.000 |
8 |
2010 |
2016 |
rs909797662
|
|
8
|
0.790 |
0.120 |
7 |
55191837 |
missense variant
|
G/A
|
snv |
|
|
0.080 |
0.875 |
8 |
2010 |
2019 |