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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
121 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 0.900 | 0.972 | 36 | 2004 | 2019 | |||
|
15 | 0.732 | 0.440 | 1 | 161674008 | missense variant | T/C | snv | 0.16 | 0.19 | 0.100 | 1.000 | 16 | 2002 | 2019 | |||
|
9 | 0.763 | 0.400 | 1 | 173222336 | intergenic variant | G/A;T | snv | 0.880 | 1.000 | 12 | 2009 | 2019 | |||||
|
6 | 0.807 | 0.400 | 1 | 173209324 | upstream gene variant | C/T | snv | 0.57 | 0.060 | 1.000 | 6 | 2011 | 2019 | ||||
|
46 | 0.597 | 0.800 | 1 | 161509955 | missense variant | A/C;G | snv | 4.0E-06; 0.48 | 0.810 | 1.000 | 5 | 2008 | 2017 | ||||
|
18 | 0.701 | 0.480 | 1 | 223111858 | stop gained | G/A | snv | 5.3E-02 | 4.4E-02 | 0.050 | 0.800 | 5 | 2007 | 2017 | |||
|
33 | 0.633 | 0.760 | 1 | 12192898 | missense variant | T/G | snv | 0.22 | 0.22 | 0.040 | 1.000 | 4 | 2000 | 2009 | |||
|
7 | 0.807 | 0.440 | 1 | 161543085 | missense variant | G/A | snv | 4.0E-06 | 0.040 | 1.000 | 4 | 2002 | 2010 | ||||
|
5 | 0.827 | 0.240 | 1 | 183563445 | missense variant | G/A;C;T | snv | 4.0E-06; 4.0E-06; 3.4E-02 | 0.720 | 1.000 | 4 | 2012 | 2019 | ||||
|
9 | 0.776 | 0.280 | 1 | 206770623 | intron variant | C/A;T | snv | 0.11 | 0.720 | 1.000 | 4 | 2013 | 2019 | ||||
|
10 | 0.790 | 0.320 | 1 | 206766559 | upstream gene variant | G/A | snv | 0.11 | 0.720 | 1.000 | 4 | 2009 | 2015 | ||||
|
5 | 0.851 | 0.320 | 1 | 161624624 | missense variant | G/A;C | snv | 4.0E-06; 2.8E-05 | 0.040 | 1.000 | 4 | 2002 | 2010 | ||||
|
26 | 0.653 | 0.320 | 1 | 113761186 | upstream gene variant | C/A | snv | 6.7E-02 | 0.700 | 1.000 | 4 | 2015 | 2019 | ||||
|
4 | 0.851 | 0.240 | 1 | 173257056 | intergenic variant | T/G | snv | 0.29 | 0.810 | 1.000 | 4 | 2013 | 2016 | ||||
|
5 | 0.827 | 0.200 | 1 | 173266926 | regulatory region variant | A/C | snv | 0.21 | 0.720 | 1.000 | 3 | 2012 | 2013 | ||||
|
3 | 0.882 | 0.160 | 1 | 161671427 | stop gained | C/T | snv | 2.8E-05 | 0.030 | 1.000 | 3 | 2006 | 2008 | ||||
|
113 | 0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 | 0.030 | 0.667 | 3 | 2018 | 2019 | ||||
|
34 | 0.637 | 0.600 | 1 | 67168129 | missense variant | G/T | snv | 0.52 | 0.51 | 0.030 | 1.000 | 3 | 2010 | 2016 | |||
|
14 | 0.742 | 0.480 | 1 | 161544752 | missense variant | A/C;G;T | snv | 0.33; 4.1E-06 | 0.030 | 1.000 | 3 | 2002 | 2013 | ||||
|
6 | 0.807 | 0.280 | 1 | 173254724 | regulatory region variant | G/A | snv | 0.46 | 0.720 | 1.000 | 3 | 2009 | 2013 | ||||
|
19 | 0.695 | 0.440 | 1 | 196740644 | missense variant | G/T | snv | 0.20 | 0.15 | 0.020 | 1.000 | 2 | 2011 | 2011 | |||
|
40 | 0.627 | 0.720 | 1 | 67259437 | 3 prime UTR variant | C/A | snv | 0.27 | 0.020 | 1.000 | 2 | 2010 | 2013 | ||||
|
2 | 0.925 | 0.120 | 1 | 183580622 | intron variant | G/T | snv | 0.30 | 0.710 | 1.000 | 2 | 2009 | 2011 | ||||
|
1 | 1.000 | 0.080 | 1 | 173282717 | intergenic variant | A/G | snv | 0.63 | 0.700 | 1.000 | 2 | 2015 | 2016 | ||||
|
27 | 0.672 | 0.520 | 1 | 159713301 | 3 prime UTR variant | G/A | snv | 0.26 | 0.020 | 1.000 | 2 | 2017 | 2018 |