rs1042718
|
|
3
|
0.925 |
0.080 |
5 |
148827354 |
missense variant
|
C/A;T
|
snv |
0.23;
4.0E-06
|
|
0.010 |
1.000 |
1 |
2017 |
2017 |
rs1045642
|
|
214
|
0.456 |
0.840 |
7 |
87509329 |
synonymous variant
|
A/G;T
|
snv |
0.50
|
|
0.020 |
1.000 |
2 |
2012 |
2018 |
rs1057518925
|
|
4
|
1.000 |
0.120 |
21 |
46114006 |
splice acceptor variant
|
A/G
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1057523354
|
|
13
|
0.763 |
0.480 |
13 |
110179387 |
missense variant
|
C/A
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1082214
|
|
6
|
0.925 |
0.080 |
12 |
56452706 |
non coding transcript exon variant
|
C/T
|
snv |
|
9.3E-02
|
0.010 |
1.000 |
1 |
2010 |
2010 |
rs11214105
|
|
2
|
1.000 |
0.120 |
11 |
112166930 |
intron variant
|
G/A
|
snv |
|
0.25
|
0.010 |
1.000 |
1 |
2015 |
2015 |
rs1212171
|
|
8
|
0.851 |
0.120 |
9 |
84667612 |
upstream gene variant
|
C/T
|
snv |
|
0.50
|
0.010 |
1.000 |
1 |
2017 |
2017 |
rs1217691063
|
|
614
|
0.330 |
0.920 |
1 |
11796309 |
missense variant
|
A/G
|
snv |
4.0E-06
|
7.0E-06
|
0.010 |
1.000 |
1 |
2013 |
2013 |
rs121912438
|
|
58
|
0.605 |
0.520 |
21 |
31667299 |
missense variant
|
G/A;C;T
|
snv |
1.2E-05;
8.0E-06
|
|
0.010 |
1.000 |
1 |
2010 |
2010 |
rs121913507
|
|
49
|
0.614 |
0.400 |
4 |
54733155 |
missense variant
|
A/T
|
snv |
|
|
0.010 |
1.000 |
1 |
2009 |
2009 |
rs121913682
|
|
52
|
0.605 |
0.400 |
4 |
54733167 |
missense variant
|
A/G;T
|
snv |
|
|
0.010 |
1.000 |
1 |
2009 |
2009 |
rs121918459
|
|
47
|
0.662 |
0.440 |
12 |
112450368 |
missense variant
|
A/G
|
snv |
1.2E-05
|
7.0E-06
|
0.700 |
|
0 |
|
|
rs1289543302
|
|
12
|
0.763 |
0.440 |
7 |
87536472 |
missense variant
|
C/T
|
snv |
|
|
0.010 |
1.000 |
1 |
2018 |
2018 |
rs1331463984
|
|
33
|
0.701 |
0.240 |
16 |
2176350 |
missense variant
|
G/A
|
snv |
|
|
0.700 |
|
0 |
|
|
rs139194636
|
|
6
|
0.882 |
0.240 |
1 |
119033203 |
missense variant
|
T/C
|
snv |
6.4E-05
|
2.3E-04
|
0.700 |
|
0 |
|
|
rs151344517
|
|
31
|
0.742 |
0.320 |
18 |
12337505 |
missense variant
|
C/T
|
snv |
|
|
0.700 |
1.000 |
1 |
2010 |
2010 |
rs1553315329
|
|
3
|
|
|
2 |
32116153 |
stop gained
|
C/A;T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1553621496
|
|
53
|
0.677 |
0.440 |
2 |
209976305 |
splice donor variant
|
T/G
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1554317002
|
|
45
|
0.724 |
0.440 |
7 |
39950821 |
frameshift variant
|
C/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1555366607
|
|
5
|
1.000 |
0.080 |
14 |
64767787 |
missense variant
|
A/G
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1555889984
|
|
5
|
0.925 |
0.120 |
21 |
34834536 |
stop gained
|
C/A
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1559931177
|
|
34
|
0.827 |
0.120 |
3 |
49047207 |
stop gained
|
G/A
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1560755661
|
|
44
|
0.701 |
0.480 |
4 |
106171094 |
splice donor variant
|
CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs16944
|
|
92
|
0.531 |
0.920 |
2 |
112837290 |
upstream gene variant
|
A/G
|
snv |
|
0.57
|
0.020 |
0.500 |
2 |
2011 |
2012 |
rs17841327
|
|
1
|
|
|
16 |
55660341 |
intron variant
|
A/C
|
snv |
|
0.63
|
0.010 |
1.000 |
1 |
2017 |
2017 |