rs564856283
|
|
3
|
|
|
12 |
101642495 |
missense variant
|
G/A;C
|
snv |
3.2E-05
|
|
0.700 |
|
0 |
|
|
rs1421405659
|
|
13
|
0.851 |
0.360 |
12 |
101642529 |
missense variant
|
T/C;G
|
snv |
|
|
0.700 |
|
0 |
|
|
rs80356727
|
|
3
|
0.925 |
0.080 |
1 |
11022400 |
missense variant
|
C/A
|
snv |
|
|
0.010 |
1.000 |
1 |
2015 |
2015 |
rs786205232
|
|
5
|
0.925 |
0.040 |
1 |
110603893 |
missense variant
|
C/T
|
snv |
4.0E-06
|
|
0.010 |
1.000 |
1 |
2016 |
2016 |
rs6280
|
|
57
|
0.602 |
0.520 |
3 |
114171968 |
missense variant
|
C/T
|
snv |
0.63
|
0.54
|
0.010 |
< 0.001 |
1 |
2010 |
2010 |
rs139194636
|
|
6
|
0.882 |
0.240 |
1 |
119033203 |
missense variant
|
T/C
|
snv |
6.4E-05
|
2.3E-04
|
0.700 |
|
0 |
|
|
rs757600616
|
|
6
|
0.882 |
0.240 |
1 |
119033279 |
stop gained
|
G/A
|
snv |
1.2E-05
|
|
0.700 |
|
0 |
|
|
rs3173615
|
|
12
|
0.807 |
0.200 |
7 |
12229791 |
missense variant
|
C/A;G
|
snv |
0.49
|
|
0.010 |
1.000 |
1 |
2017 |
2017 |
rs1990622
|
|
16
|
0.742 |
0.200 |
7 |
12244161 |
downstream gene variant
|
A/G
|
snv |
|
0.52
|
0.010 |
1.000 |
1 |
2017 |
2017 |
rs900147
|
|
1
|
|
|
11 |
13272293 |
upstream gene variant
|
G/A
|
snv |
|
0.62
|
0.010 |
1.000 |
1 |
2015 |
2015 |
rs781984979
|
|
11
|
0.851 |
0.240 |
1 |
145912346 |
stop gained
|
G/A
|
snv |
4.0E-06
|
|
0.700 |
|
0 |
|
|
rs781939614
|
|
11
|
0.851 |
0.240 |
1 |
145916914 |
stop gained
|
G/A
|
snv |
4.0E-06
|
|
0.700 |
|
0 |
|
|
rs138008832
|
|
8
|
1.000 |
|
5 |
150123142 |
missense variant
|
G/A;T
|
snv |
1.1E-04;
1.6E-05
|
|
0.700 |
|
0 |
|
|
rs3810651
|
|
4
|
0.925 |
0.080 |
X |
152652814 |
missense variant
|
A/C;T
|
snv |
|
|
0.010 |
1.000 |
1 |
2011 |
2011 |
rs1569548274
|
|
43
|
0.701 |
0.520 |
X |
154030553 |
splice acceptor variant
|
TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs76763715
|
|
35
|
0.658 |
0.520 |
1 |
155235843 |
missense variant
|
T/C;G
|
snv |
2.3E-03
|
|
0.010 |
1.000 |
1 |
2014 |
2014 |
rs1289324472
|
|
21
|
0.716 |
0.400 |
1 |
155236354 |
missense variant
|
T/C
|
snv |
|
1.4E-05
|
0.010 |
1.000 |
1 |
2014 |
2014 |
rs2230288
|
|
18
|
0.776 |
0.160 |
1 |
155236376 |
missense variant
|
C/T
|
snv |
1.0E-02
|
1.0E-02
|
0.700 |
|
0 |
|
|
rs34016896
|
|
3
|
0.925 |
0.080 |
3 |
161275076 |
regulatory region variant
|
C/T
|
snv |
|
0.28
|
0.010 |
1.000 |
1 |
2018 |
2018 |
rs1057518839
|
|
4
|
1.000 |
|
1 |
161305924 |
missense variant
|
A/C
|
snv |
|
|
0.700 |
|
0 |
|
|
rs11868035
|
|
14
|
0.763 |
0.200 |
17 |
17811787 |
splice region variant
|
G/A
|
snv |
0.45
|
0.33
|
0.010 |
1.000 |
1 |
2014 |
2014 |
rs200455852
|
|
6
|
0.851 |
0.200 |
8 |
18064458 |
missense variant
|
T/C;G
|
snv |
5.8E-05
|
|
0.700 |
|
0 |
|
|
rs76732092
|
|
1
|
|
|
11 |
18358030 |
missense variant
|
C/A
|
snv |
|
|
0.010 |
1.000 |
1 |
2015 |
2015 |
rs35986369
|
|
2
|
1.000 |
0.040 |
3 |
19950975 |
frameshift variant
|
-/GG
|
delins |
|
|
0.010 |
1.000 |
1 |
2004 |
2004 |
rs80338777
|
|
10
|
0.827 |
0.200 |
1 |
201077915 |
missense variant
|
C/A;T
|
snv |
1.2E-05
|
|
0.010 |
1.000 |
1 |
2000 |
2000 |