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 | 0.827 | 0.120 | 3 | 46387167 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.040 | 8 | 103931366 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
11 | 0.752 | 0.360 | 5 | 151078585 | intron variant | C/A;T | snv | 0.710 | 1.000 | 2 | 2015 | 2019 | |||||
|
5 | 0.827 | 0.120 | 5 | 132421409 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.040 | 8 | 3826677 | intron variant | C/T | snv | 0.76 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 20 | 45352086 | upstream gene variant | T/C | snv | 0.79 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
6 | 0.807 | 0.280 | 8 | 89837077 | downstream gene variant | C/A | snv | 0.18 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 2 | 85699222 | downstream gene variant | C/T | snv | 0.31 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.040 | 4 | 102593288 | non coding transcript exon variant | C/G | snv | 0.42 | 0.020 | 1.000 | 2 | 2014 | 2016 | ||||
|
1 | 1.000 | 0.040 | 19 | 1312729 | intergenic variant | G/A | snv | 7.9E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
23 | 0.672 | 0.360 | 3 | 122284922 | missense variant | A/G | snv | 0.15 | 9.0E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||
|
19 | 0.701 | 0.520 | 3 | 49358250 | missense variant | G/A | snv | 0.010 | < 0.001 | 1 | 2014 | 2014 | |||||
|
17 | 0.701 | 0.480 | 6 | 43785475 | 3 prime UTR variant | A/G | snv | 0.59 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
11 | 0.790 | 0.200 | 19 | 48703374 | missense variant | A/T | snv | 3.6E-02 | 1.2E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||
|
11 | 0.807 | 0.200 | 6 | 31306778 | intron variant | C/T | snv | 0.12 | 0.810 | 1.000 | 4 | 2008 | 2018 | ||||
|
5 | 0.827 | 0.160 | 6 | 52187159 | intron variant | G/A;T | snv | 0.020 | 1.000 | 2 | 2015 | 2018 | |||||
|
1 | 1.000 | 0.040 | 1 | 67238424 | intron variant | G/A | snv | 0.43 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
5 | 0.827 | 0.120 | 3 | 28244770 | intron variant | C/T | snv | 0.15 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 5 | 159231004 | intron variant | A/G | snv | 0.13 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
11 | 0.752 | 0.360 | 4 | 101829919 | missense variant | G/A;T | snv | 0.26; 8.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 19 | 10467167 | missense variant | C/A;T | snv | 0.17; 4.8E-05 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.040 | 20 | 49939692 | intron variant | C/T | snv | 0.34 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
33 | 0.633 | 0.760 | 1 | 12192898 | missense variant | T/G | snv | 0.22 | 0.22 | 0.020 | 1.000 | 2 | 2015 | 2015 | |||
|
5 | 0.925 | 0.040 | 6 | 31116658 | synonymous variant | G/A | snv | 0.37 | 0.41 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
5 | 0.827 | 0.120 | 11 | 2208529 | regulatory region variant | A/G | snv | 0.77 | 0.700 | 1.000 | 1 | 2016 | 2016 |