rs104894270
|
|
3
|
0.882 |
0.160 |
11 |
47582436 |
missense variant
|
C/T
|
snv |
1.6E-05
|
2.8E-05
|
0.010 |
1.000 |
1 |
2013 |
2013 |
rs104894705
|
|
2
|
0.925 |
0.120 |
19 |
1391006 |
missense variant
|
G/A
|
snv |
5.6E-05
|
8.4E-05
|
0.010 |
1.000 |
1 |
2000 |
2000 |
rs104894885
|
|
5
|
0.851 |
0.120 |
X |
119873312 |
missense variant
|
G/A;C
|
snv |
|
|
0.010 |
1.000 |
1 |
2007 |
2007 |
rs1131692037
|
|
2
|
0.925 |
0.120 |
16 |
1773083 |
stop gained
|
C/A;T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1135402725
|
|
6
|
0.851 |
0.120 |
11 |
34995002 |
stop gained
|
C/T
|
snv |
1.2E-05
|
|
0.010 |
1.000 |
1 |
2019 |
2019 |
rs113994093
|
|
1
|
1.000 |
0.120 |
15 |
89330241 |
missense variant
|
C/T
|
snv |
1.2E-05
|
1.4E-05
|
0.700 |
1.000 |
1 |
2009 |
2009 |
rs113994098
|
|
12
|
0.742 |
0.320 |
15 |
89321792 |
missense variant
|
C/T
|
snv |
1.5E-04
|
2.7E-04
|
0.700 |
1.000 |
1 |
2009 |
2009 |
rs1161932777
|
|
2
|
0.925 |
0.120 |
16 |
1772798 |
splice donor variant
|
C/A
|
snv |
|
7.0E-06
|
0.700 |
1.000 |
1 |
1986 |
1986 |
rs118192098
|
|
5
|
0.851 |
0.200 |
MT |
8344 |
non coding transcript exon variant
|
A/G
|
snv |
|
|
0.700 |
1.000 |
2 |
1991 |
1993 |
rs118192100
|
|
4
|
0.882 |
0.200 |
MT |
8363 |
non coding transcript exon variant
|
G/A
|
snv |
|
|
0.700 |
1.000 |
1 |
2000 |
2000 |
rs121908576
|
|
4
|
0.851 |
0.360 |
2 |
218661153 |
stop gained
|
C/T
|
snv |
1.7E-04
|
2.9E-04
|
0.700 |
|
0 |
|
|
rs121908577
|
|
2
|
0.925 |
0.240 |
2 |
218661846 |
missense variant
|
G/A
|
snv |
1.6E-05
|
7.0E-06
|
0.700 |
1.000 |
5 |
2007 |
2015 |
rs121909366
|
|
3
|
0.925 |
0.200 |
5 |
42699892 |
missense variant
|
G/C
|
snv |
1.2E-05
|
|
0.010 |
1.000 |
1 |
1997 |
1997 |
rs121918657
|
|
2
|
0.925 |
0.120 |
9 |
133352446 |
stop gained
|
G/A
|
snv |
1.2E-05
|
|
0.700 |
1.000 |
3 |
1998 |
2013 |
rs121918658
|
|
2
|
0.925 |
0.120 |
9 |
133352074 |
missense variant
|
A/C
|
snv |
|
|
0.700 |
1.000 |
7 |
1998 |
2012 |
rs1267554976
|
|
1
|
1.000 |
0.120 |
11 |
68036321 |
start lost
|
G/A;C
|
snv |
|
3.5E-05
|
0.700 |
|
0 |
|
|
rs1283780488
|
|
2
|
0.925 |
0.200 |
11 |
78469304 |
stop gained
|
-/T
|
delins |
|
|
0.010 |
< 0.001 |
1 |
2015 |
2015 |
rs1319811735
|
|
1
|
1.000 |
0.120 |
9 |
133352493 |
missense variant
|
A/G
|
snv |
4.0E-06
|
|
0.700 |
|
0 |
|
|
rs1352878283
|
|
1
|
1.000 |
0.120 |
22 |
50523639 |
missense variant
|
A/G
|
snv |
|
7.0E-06
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs137852767
|
|
2
|
0.925 |
0.120 |
5 |
251011 |
missense variant
|
C/T
|
snv |
|
|
0.700 |
1.000 |
3 |
1995 |
2015 |
rs137852863
|
|
5
|
0.882 |
0.120 |
5 |
61073136 |
stop gained
|
C/T
|
snv |
4.0E-05
|
3.5E-05
|
0.700 |
1.000 |
1 |
2005 |
2005 |
rs1391748504
|
|
1
|
1.000 |
0.120 |
9 |
133352143 |
splice acceptor variant
|
C/G
|
snv |
|
7.0E-06
|
0.700 |
|
0 |
|
|
rs1410388157
|
|
1
|
1.000 |
0.120 |
9 |
133356415 |
frameshift variant
|
-/GCAGCCC
|
delins |
|
|
0.700 |
|
0 |
|
|
rs141970897
|
|
8
|
0.925 |
0.200 |
9 |
129104269 |
missense variant
|
T/C
|
snv |
1.1E-03
|
7.8E-04
|
0.010 |
1.000 |
1 |
2020 |
2020 |
rs142441643
|
|
15
|
0.732 |
0.320 |
5 |
223509 |
stop gained
|
C/T
|
snv |
2.0E-04
|
2.4E-04
|
0.700 |
|
0 |
|
|