rs1245314
|
|
1
|
|
|
14 |
27023434 |
intron variant
|
A/G;T
|
snv |
|
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs17111230
|
|
1
|
|
|
14 |
40922047 |
intergenic variant
|
G/C
|
snv |
|
0.56
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs2474937
|
|
6
|
0.851 |
0.120 |
1 |
118360355 |
intergenic variant
|
A/G
|
snv |
|
0.25
|
0.800 |
1.000 |
1 |
2013 |
2013 |
rs2844660
|
|
1
|
|
|
6 |
30855983 |
regulatory region variant
|
T/C
|
snv |
|
7.9E-02
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs56409046
|
|
1
|
|
|
6 |
9320073 |
intergenic variant
|
C/T
|
snv |
|
0.27
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs75661265
|
|
1
|
|
|
8 |
59275232 |
regulatory region variant
|
C/T
|
snv |
|
0.11
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs7941395
|
|
1
|
|
|
11 |
67579946 |
upstream gene variant
|
A/G
|
snv |
|
0.38
|
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 |
2011 |
2013 |
rs4343
|
|
14
|
0.742 |
0.480 |
17 |
63488670 |
synonymous variant
|
G/A
|
snv |
0.53
|
|
0.010 |
1.000 |
1 |
2017 |
2017 |
rs12921862
|
|
10
|
0.763 |
0.200 |
16 |
331927 |
intron variant
|
C/A
|
snv |
|
0.18
|
0.010 |
1.000 |
1 |
2019 |
2019 |
rs492842
|
|
1
|
|
|
5 |
79114164 |
intron variant
|
C/T
|
snv |
|
0.59
|
0.010 |
1.000 |
1 |
2017 |
2017 |
rs542852
|
|
1
|
|
|
5 |
79113573 |
intron variant
|
T/C
|
snv |
|
0.63
|
0.010 |
1.000 |
1 |
2017 |
2017 |
rs2850144
|
|
1
|
|
|
21 |
43076866 |
5 prime UTR variant
|
C/G
|
snv |
|
0.88
|
0.010 |
1.000 |
1 |
2017 |
2017 |
rs879253817
|
|
4
|
0.925 |
0.120 |
12 |
119876131 |
frameshift variant
|
AAAGGATTCC/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs121912594
|
|
7
|
0.882 |
0.160 |
2 |
210675762 |
missense variant
|
A/C
|
snv |
|
|
0.010 |
1.000 |
1 |
2007 |
2007 |
rs114878910
|
|
4
|
0.882 |
0.080 |
9 |
37784894 |
stop gained
|
G/A;C
|
snv |
8.6E-06;
3.1E-04
|
|
0.010 |
1.000 |
1 |
2014 |
2014 |
rs3832879
|
|
2
|
|
|
12 |
4372733 |
non coding transcript exon variant
|
-/A;G
|
ins |
4.0E-06;
0.12;
4.0E-06;
4.0E-06
|
0.10
|
0.010 |
1.000 |
1 |
2013 |
2013 |
rs200478425
|
|
2
|
1.000 |
0.040 |
17 |
44075780 |
missense variant
|
G/A;C
|
snv |
4.0E-06;
5.6E-05
|
|
0.010 |
1.000 |
1 |
2013 |
2013 |
rs104894073
|
|
8
|
0.827 |
0.080 |
8 |
11750213 |
missense variant
|
G/A;C;T
|
snv |
|
|
0.010 |
1.000 |
1 |
2012 |
2012 |
rs387906772
|
|
3
|
1.000 |
0.080 |
8 |
11755064 |
missense variant
|
A/G;T
|
snv |
|
|
0.010 |
1.000 |
1 |
2015 |
2015 |
rs4808863
|
|
5
|
0.851 |
0.080 |
19 |
18869363 |
missense variant
|
G/A
|
snv |
0.37
|
0.30
|
0.010 |
1.000 |
1 |
2015 |
2015 |
rs374016704
|
|
3
|
0.925 |
0.120 |
19 |
18868625 |
missense variant
|
A/G
|
snv |
5.1E-04
|
2.7E-04
|
0.700 |
|
0 |
|
|
rs11752813
|
|
1
|
|
|
6 |
42960279 |
upstream gene variant
|
C/G
|
snv |
|
0.41
|
0.010 |
1.000 |
1 |
2017 |
2017 |
rs727504412
|
|
3
|
0.925 |
0.120 |
20 |
10645245 |
frameshift variant
|
ACTG/-
|
delins |
|
|
0.700 |
1.000 |
4 |
1997 |
2005 |
rs57920071
|
|
11
|
0.763 |
0.320 |
1 |
156136984 |
missense variant
|
C/T
|
snv |
4.0E-06
|
7.0E-06
|
0.010 |
1.000 |
1 |
2004 |
2004 |