Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
83 | 0.550 | 0.880 | 5 | 1286401 | 3 prime UTR variant | C/A | snv | 0.52 | 0.800 | 1.000 | 20 | 2010 | 2015 | ||||
|
48 | 0.600 | 0.600 | 5 | 1293971 | synonymous variant | C/T | snv | 0.29 | 0.22 | 0.090 | 1.000 | 9 | 2009 | 2018 | |||
|
19 | 0.724 | 0.240 | 5 | 1287079 | 3 prime UTR variant | G/A | snv | 0.63 | 0.040 | 1.000 | 4 | 2016 | 2019 | ||||
|
35 | 0.649 | 0.320 | 5 | 1295234 | upstream gene variant | A/G | snv | 0.25 | 0.030 | 1.000 | 3 | 2013 | 2018 | ||||
|
25 | 0.689 | 0.400 | 5 | 1296371 | upstream gene variant | A/G | snv | 0.49 | 0.020 | 1.000 | 2 | 2009 | 2015 | ||||
|
3 | 0.882 | 0.080 | 5 | 1279849 | intron variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
53 | 0.595 | 0.560 | 5 | 1279675 | intron variant | C/T | snv | 0.36 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.882 | 0.080 | 5 | 1285917 | intron variant | G/A | snv | 7.8E-03 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.882 | 0.080 | 5 | 1271959 | intron variant | C/T | snv | 5.1E-03 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
7 | 0.827 | 0.120 | 5 | 1268529 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
8 | 0.790 | 0.360 | 5 | 1266195 | intron variant | A/G | snv | 0.55 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
16 | 0.724 | 0.400 | 5 | 1279913 | intron variant | G/A | snv | 0.18 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.882 | 0.080 | 5 | 1292868 | intron variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
29 | 0.667 | 0.560 | 5 | 1288432 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
5 | 0.827 | 0.120 | 5 | 1267241 | intron variant | T/A | snv | 0.23 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
10 | 0.827 | 0.120 | 5 | 1294051 | missense variant | C/T | snv | 2.2E-02 | 2.2E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
3 | 0.882 | 0.080 | 5 | 1294574 | synonymous variant | C/T | snv | 9.8E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
10 | 0.790 | 0.160 | 5 | 1282204 | intron variant | C/A | snv | 0.29 | 0.010 | 1.000 | 1 | 2019 | 2019 |