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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.851 | 0.160 | 6 | 32447303 | downstream gene variant | G/A | snv | 0.20 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
9 | 0.790 | 0.280 | 5 | 132656717 | intron variant | A/C | snv | 0.21 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
15 | 0.724 | 0.440 | 16 | 3254463 | missense variant | C/T | snv | 0.24 | 0.21 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
2 | 1.000 | 0.040 | 6 | 88149832 | intron variant | C/T | snv | 0.21 | 0.020 | 1.000 | 2 | 2011 | 2013 | ||||
|
2 | 1.000 | 0.040 | 5 | 76975028 | intron variant | C/A | snv | 0.26 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
48 | 0.637 | 0.440 | 1 | 46405089 | missense variant | C/A | snv | 0.24 | 0.26 | 0.020 | 0.500 | 2 | 2011 | 2014 | |||
|
15 | 0.763 | 0.160 | 11 | 18026269 | intron variant | G/T | snv | 0.33 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 11 | 18038806 | intron variant | C/T | snv | 0.36 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
82 | 0.562 | 0.640 | 13 | 46895805 | synonymous variant | G/A | snv | 0.41 | 0.40 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
1 | 1.000 | 0.040 | 11 | 18046616 | upstream gene variant | C/A | snv | 0.40 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
113 | 0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 | 0.020 | 1.000 | 2 | 2019 | 2019 | ||||
|
5 | 0.851 | 0.200 | 17 | 45792776 | intron variant | C/T | snv | 0.43 | 0.030 | 1.000 | 3 | 2012 | 2016 | ||||
|
37 | 0.627 | 0.600 | 2 | 233274722 | missense variant | A/G | snv | 0.45 | 0.44 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
3 | 0.882 | 0.080 | 17 | 45808001 | intron variant | G/T | snv | 0.44 | 0.020 | 1.000 | 2 | 2012 | 2016 | ||||
|
249 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 0.030 | 1.000 | 3 | 2011 | 2017 | |||
|
3 | 0.882 | 0.120 | 2 | 218261086 | 5 prime UTR variant | C/T | snv | 0.44 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
106 | 0.532 | 0.760 | 12 | 6845711 | synonymous variant | C/T | snv | 0.36 | 0.44 | 0.040 | 0.250 | 4 | 2008 | 2014 | |||
|
2 | 0.925 | 0.080 | 7 | 30654644 | intron variant | C/T | snv | 0.48 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 1.000 | 0.040 | 11 | 18047335 | upstream gene variant | T/C | snv | 0.48 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
6 | 0.827 | 0.160 | 10 | 99531836 | upstream gene variant | T/C | snv | 0.55 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
5 | 0.851 | 0.080 | 7 | 30654159 | intron variant | C/T | snv | 0.67 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
119 | 0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
108 | 0.508 | 0.800 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 0.69 | 0.020 | 0.500 | 2 | 2013 | 2019 | ||||
|
140 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 0.020 | 1.000 | 2 | 2017 | 2019 | ||||
|
10 | 0.763 | 0.200 | 9 | 114796423 | intron variant | C/T | snv | 0.73 | 0.010 | 1.000 | 1 | 2019 | 2019 |