rs397507444
|
|
306
|
0.405 |
0.880 |
1 |
11794407 |
missense variant
|
T/G
|
snv |
|
|
0.100 |
0.762 |
21 |
2000 |
2018 |
rs899127658
|
|
82
|
0.547 |
0.720 |
11 |
46739084 |
missense variant
|
G/A;C
|
snv |
|
|
0.040 |
1.000 |
4 |
1999 |
2013 |
rs5742905
|
|
22
|
0.701 |
0.360 |
21 |
43063074 |
missense variant
|
A/G
|
snv |
|
|
0.030 |
1.000 |
3 |
1999 |
2012 |
rs1300260120
|
|
1
|
1.000 |
0.080 |
7 |
22193435 |
missense variant
|
G/A
|
snv |
|
|
0.020 |
1.000 |
2 |
2002 |
2006 |
rs1169089134
|
|
9
|
0.790 |
0.320 |
11 |
49206785 |
missense variant
|
C/G;T
|
snv |
|
|
0.010 |
1.000 |
1 |
2014 |
2014 |
rs1477196
|
|
7
|
0.851 |
0.200 |
16 |
53774346 |
intron variant
|
A/G
|
snv |
|
0.71
|
0.010 |
1.000 |
1 |
2013 |
2013 |
rs1941404
|
|
3
|
0.882 |
0.120 |
11 |
114298316 |
non coding transcript exon variant
|
A/G
|
snv |
|
0.59
|
0.010 |
1.000 |
1 |
2012 |
2012 |
rs333
|
|
23
|
0.667 |
0.520 |
3 |
46373453 |
frameshift variant
|
GTCAGTATCAATTCTGGAAGAATTTCCAGACA/-
|
delins |
|
7.3E-02
|
0.010 |
1.000 |
1 |
2013 |
2013 |
rs368087026
|
|
33
|
0.637 |
0.520 |
21 |
45530890 |
missense variant
|
G/A
|
snv |
|
|
0.010 |
1.000 |
1 |
2012 |
2012 |
rs4646903
|
|
36
|
0.630 |
0.640 |
15 |
74719300 |
downstream gene variant
|
A/G;T
|
snv |
|
0.18
|
0.010 |
1.000 |
1 |
2013 |
2013 |
rs694539
|
|
10
|
0.776 |
0.200 |
11 |
114262697 |
intron variant
|
C/T
|
snv |
|
0.21
|
0.010 |
1.000 |
1 |
2012 |
2012 |
rs7096206
|
|
17
|
0.708 |
0.480 |
10 |
52771925 |
upstream gene variant
|
G/A;C;T
|
snv |
|
|
0.010 |
1.000 |
1 |
2013 |
2013 |
rs876657421
|
|
11
|
0.763 |
0.240 |
21 |
43063074 |
coding sequence variant
|
-/CCCAGCAAAAGCCCCACCTGGATGATCCACCCCAGTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAG;CCCAGCAAAAGCCCCACCTGGGTGATCCACCCCAGTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAG
|
delins |
|
|
0.010 |
1.000 |
1 |
2012 |
2012 |
rs1217691063
|
|
614
|
0.330 |
0.920 |
1 |
11796309 |
missense variant
|
A/G
|
snv |
4.0E-06
|
7.0E-06
|
0.100 |
0.936 |
156 |
1996 |
2019 |
rs773371778
|
|
2
|
0.925 |
0.080 |
16 |
56972000 |
missense variant
|
C/T
|
snv |
4.0E-06
|
|
0.010 |
1.000 |
1 |
2002 |
2002 |
rs751377893
|
|
65
|
0.574 |
0.680 |
1 |
169546513 |
missense variant
|
T/C
|
snv |
4.0E-06
|
|
0.020 |
1.000 |
2 |
2006 |
2013 |
rs749213026
|
|
1
|
1.000 |
0.080 |
10 |
99235705 |
missense variant
|
A/G
|
snv |
4.0E-06
|
|
0.010 |
1.000 |
1 |
2001 |
2001 |
rs763351020
|
|
35
|
0.633 |
0.560 |
7 |
101132046 |
missense variant
|
C/T
|
snv |
4.0E-06
|
|
0.020 |
1.000 |
2 |
2007 |
2019 |
rs777919630
|
|
40
|
0.623 |
0.680 |
21 |
43062358 |
missense variant
|
G/A;T
|
snv |
8.0E-06;
4.0E-06
|
|
0.060 |
1.000 |
6 |
2003 |
2018 |
rs769737896
|
|
5
|
0.851 |
0.080 |
19 |
11110759 |
stop gained
|
C/A;G;T
|
snv |
4.0E-06;
4.0E-06;
8.0E-06
|
|
0.010 |
1.000 |
1 |
2002 |
2002 |
rs1206846668
|
|
16
|
0.724 |
0.400 |
11 |
49185773 |
missense variant
|
G/A
|
snv |
4.1E-06
|
|
0.010 |
1.000 |
1 |
2016 |
2016 |
rs375752214
|
|
22
|
0.708 |
0.400 |
7 |
150998541 |
missense variant
|
C/T
|
snv |
4.1E-06
|
4.2E-05
|
0.010 |
1.000 |
1 |
2011 |
2011 |
rs765625943
|
|
4
|
0.882 |
0.200 |
1 |
11803417 |
missense variant
|
G/A
|
snv |
4.3E-06
|
|
0.010 |
1.000 |
1 |
2001 |
2001 |
rs1237063529
|
|
13
|
0.752 |
0.360 |
21 |
43058894 |
missense variant
|
T/G
|
snv |
5.6E-06
|
|
0.010 |
1.000 |
1 |
2018 |
2018 |
rs1194897557
|
|
7
|
0.827 |
0.240 |
1 |
11796276 |
missense variant
|
A/G
|
snv |
8.0E-06
|
|
0.020 |
1.000 |
2 |
1999 |
2000 |