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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.080 | 1 | 21500073 | intergenic variant | A/G | snv | 0.16 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
81 | 0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 1.000 | 0.080 | 2 | 27764354 | intergenic variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
23 | 0.672 | 0.360 | 3 | 122284922 | missense variant | A/G | snv | 0.15 | 9.0E-02 | 0.020 | 1.000 | 2 | 2015 | 2017 | |||
|
39 | 0.633 | 0.600 | 3 | 122284910 | missense variant | G/T | snv | 0.13 | 0.11 | 0.020 | 1.000 | 2 | 2015 | 2017 | |||
|
13 | 0.732 | 0.280 | 3 | 122284985 | missense variant | G/C | snv | 0.95 | 0.92 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
9 | 0.763 | 0.240 | 3 | 122284955 | missense variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
8 | 0.827 | 0.280 | 4 | 87982701 | synonymous variant | C/G;T | snv | 0.32 | 0.26 | 0.020 | 1.000 | 2 | 2013 | 2015 | |||
|
4 | 0.882 | 0.120 | 5 | 177371305 | intron variant | G/A | snv | 0.24 | 0.21 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
3 | 0.925 | 0.160 | 6 | 39156672 | intergenic variant | T/G | snv | 0.18 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.080 | 6 | 50821065 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.080 | 6 | 131002852 | intron variant | C/T | snv | 0.78 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.120 | 7 | 93426338 | 3 prime UTR variant | G/A | snv | 0.15 | 0.11 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
5 | 0.851 | 0.240 | 7 | 93426441 | missense variant | A/G | snv | 0.39 | 0.36 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
3 | 0.882 | 0.120 | 7 | 142929454 | missense variant | T/A;C;G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.080 | 7 | 142929678 | intron variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.080 | 7 | 142930043 | intron variant | A/G | snv | 0.79 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 7 | 142928163 | synonymous variant | G/A | snv | 5.1E-02 | 9.2E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 1.000 | 0.080 | 7 | 30878216 | intron variant | G/A | snv | 7.3E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.925 | 0.120 | 10 | 62655424 | missense variant | A/C;G | snv | 0.80 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
8 | 0.807 | 0.240 | 11 | 64593747 | stop gained | G/A;C | snv | 2.8E-04 | 0.020 | 1.000 | 2 | 2006 | 2007 | ||||
|
5 | 0.851 | 0.200 | 11 | 64591825 | missense variant | G/A | snv | 1.8E-04 | 8.4E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
3 | 0.925 | 0.120 | 13 | 33016046 | upstream gene variant | G/A | snv | 0.17 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 13 | 42171982 | intron variant | A/C | snv | 0.11 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.925 | 0.160 | 13 | 33054001 | missense variant | T/A;G | snv | 0.14 | 0.010 | 1.000 | 1 | 2019 | 2019 |