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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.080 | 7 | 30654644 | intron variant | C/T | snv | 0.48 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.851 | 0.080 | 7 | 30654159 | intron variant | C/T | snv | 0.67 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
10 | 0.763 | 0.200 | 9 | 114796423 | intron variant | C/T | snv | 0.73 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 11 | 18038806 | intron variant | C/T | snv | 0.36 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
249 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 0.030 | 1.000 | 3 | 2011 | 2017 | |||
|
169 | 0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
5 | 0.827 | 0.160 | 3 | 38613773 | missense variant | G/A | snv | 1.2E-05 | 8.4E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
5 | 0.851 | 0.160 | 6 | 32447303 | downstream gene variant | G/A | snv | 0.20 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.925 | 0.040 | 12 | 52898860 | missense variant | G/A | snv | 7.6E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
82 | 0.562 | 0.640 | 13 | 46895805 | synonymous variant | G/A | snv | 0.41 | 0.40 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
2 | 1.000 | 0.040 | 2 | 219232579 | missense variant | G/A;C | snv | 3.2E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
6 | 0.851 | 0.120 | 7 | 8678450 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
19 | 0.752 | 0.400 | 2 | 135851076 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
2 | 1.000 | 0.040 | 8 | 132888076 | missense variant | G/A;C | snv | 7.6E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
6 | 0.827 | 0.040 | 16 | 50710812 | missense variant | G/A;T | snv | 4.0E-06; 4.0E-06 | 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 | ||||
|
15 | 0.763 | 0.160 | 11 | 18026269 | intron variant | G/T | snv | 0.33 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
39 | 0.633 | 0.600 | 3 | 122284910 | missense variant | G/T | snv | 0.13 | 0.11 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
8 | 0.807 | 0.080 | 10 | 77856847 | missense variant | T/A;C | snv | 0.93 | 0.010 | < 0.001 | 1 | 2006 | 2006 | ||||
|
113 | 0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 | 0.020 | 1.000 | 2 | 2019 | 2019 | ||||
|
6 | 0.827 | 0.160 | 10 | 99531836 | upstream gene variant | T/C | snv | 0.55 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
25 | 0.662 | 0.440 | 10 | 6057082 | intron variant | T/C | snv | 0.18 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
72 | 0.581 | 0.520 | 17 | 30237328 | upstream gene variant | T/C | snv | 0.18 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 1.000 | 0.040 | 11 | 18047335 | upstream gene variant | T/C | snv | 0.48 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 1.000 | 0.040 | 6 | 32611931 | intergenic variant | T/C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 |