rs10941679
|
|
11
|
0.763 |
0.120 |
5 |
44706396 |
intergenic variant
|
A/G
|
snv |
|
0.25
|
0.010 |
1.000 |
1 |
2016 |
2016 |
rs7716600
|
|
4
|
0.925 |
0.080 |
5 |
44874903 |
regulatory region variant
|
A/C;T
|
snv |
|
|
0.010 |
1.000 |
1 |
2014 |
2014 |
rs121434592
|
|
54
|
0.595 |
0.640 |
14 |
104780214 |
missense variant
|
C/T
|
snv |
4.0E-06
|
|
0.010 |
1.000 |
1 |
2011 |
2011 |
rs113994087
|
|
12
|
0.827 |
0.120 |
2 |
29209798 |
missense variant
|
C/A;T
|
snv |
|
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs730881360
|
|
1
|
|
|
11 |
108227629 |
missense variant
|
G/A;C
|
snv |
|
|
0.010 |
1.000 |
1 |
2010 |
2010 |
rs1555114766
|
|
1
|
|
|
11 |
108317486 |
stop gained
|
G/A
|
snv |
|
|
0.700 |
|
0 |
|
|
rs28904921
|
|
12
|
0.763 |
0.320 |
11 |
108329202 |
missense variant
|
T/G
|
snv |
4.0E-05
|
6.3E-05
|
0.700 |
|
0 |
|
|
rs2273535
|
|
38
|
0.645 |
0.360 |
20 |
56386485 |
missense variant
|
A/C;T
|
snv |
0.28
|
|
0.010 |
1.000 |
1 |
2014 |
2014 |
rs28997576
|
|
11
|
0.776 |
0.160 |
2 |
214752454 |
missense variant
|
C/G;T
|
snv |
1.5E-02
|
|
0.010 |
1.000 |
1 |
2006 |
2006 |
rs1553622530
|
|
1
|
|
|
2 |
214781220 |
stop gained
|
C/T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs121913348
|
|
20
|
0.763 |
0.480 |
7 |
140781617 |
missense variant
|
C/A;G;T
|
snv |
|
|
0.700 |
1.000 |
3 |
2002 |
2014 |
rs80357973
|
|
4
|
0.925 |
0.200 |
17 |
43045793 |
splice acceptor variant
|
CCAATTGC/-;CCAATTGCCCAATTGC
|
delins |
|
|
0.700 |
1.000 |
13 |
1976 |
2016 |
rs80357243
|
|
2
|
|
|
17 |
43063885 |
missense variant
|
A/C;G
|
snv |
|
|
0.700 |
1.000 |
2 |
2010 |
2015 |
rs80357772
|
|
4
|
0.925 |
0.200 |
17 |
43094549 |
frameshift variant
|
AT/-
|
del |
|
|
0.700 |
1.000 |
2 |
2004 |
2016 |
rs1057517590
|
|
2
|
1.000 |
|
17 |
43063370 |
frameshift variant
|
A/-
|
del |
|
|
0.700 |
1.000 |
1 |
2004 |
2004 |
rs1555582520
|
|
1
|
|
|
17 |
43076486 |
splice donor variant
|
A/G
|
snv |
|
|
0.700 |
1.000 |
1 |
2004 |
2004 |
rs1555599208
|
|
2
|
1.000 |
|
17 |
43115726 |
stop gained
|
TTGCAAAATATGTGGTCACACTTTGTGGAGACAGGTTCCTTGATCAACTCCAGA/-
|
del |
|
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs273898674
|
|
4
|
0.925 |
0.200 |
17 |
43093472 |
stop gained
|
G/A
|
snv |
|
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs397508940
|
|
2
|
1.000 |
|
17 |
43104958 |
splice acceptor variant
|
T/C;G
|
snv |
|
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs397508979
|
|
1
|
|
|
17 |
43092974 |
frameshift variant
|
-/GAAAAGTGAA
|
ins |
|
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs397508983
|
|
2
|
1.000 |
|
17 |
43092959 |
stop gained
|
G/A;C
|
snv |
4.0E-06
|
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs41293463
|
|
9
|
0.790 |
0.280 |
17 |
43051071 |
missense variant
|
A/C;T
|
snv |
1.2E-05
|
|
0.010 |
1.000 |
1 |
1999 |
1999 |
rs41293465
|
|
6
|
0.851 |
0.200 |
17 |
43045767 |
stop gained
|
G/A
|
snv |
1.2E-05
|
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs55680408
|
|
1
|
|
|
17 |
43095875 |
missense variant
|
T/A;C
|
snv |
3.6E-05
|
2.8E-05
|
0.010 |
1.000 |
1 |
2016 |
2016 |
rs587781632
|
|
4
|
0.925 |
0.200 |
17 |
43106476 |
splice donor variant
|
A/C;T
|
snv |
|
|
0.700 |
1.000 |
1 |
2016 |
2016 |