| 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 | 0.040 | 4 | 141084419 | intron variant | C/A | snv | 0.31 | 0.710 | 1.000 | 2 | 2012 | 2015 | ||||
|
33 | 0.641 | 0.680 | 11 | 34438684 | upstream gene variant | C/T | snv | 0.16 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 4 | 144584486 | intron variant | C/T | snv | 0.23 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 8 | 30728221 | upstream gene variant | G/T | snv | 0.20 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.040 | 4 | 68794020 | intergenic variant | C/T | snv | 0.15 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 5 | 148475407 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.040 | 5 | 156434616 | intron variant | G/A | snv | 2.4E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
53 | 0.595 | 0.560 | 5 | 1279675 | intron variant | C/T | snv | 0.36 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 5 | 132425039 | intron variant | G/T | snv | 0.17 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
6 | 0.807 | 0.120 | 6 | 31815431 | upstream gene variant | A/C;T | snv | 0.710 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.040 | 9 | 4143749 | intron variant | A/T | snv | 0.39 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 15 | 83724155 | intron variant | G/A | snv | 0.84 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
17 | 0.732 | 0.280 | 4 | 24800161 | missense variant | G/C | snv | 1.6E-04 | 2.1E-05 | 0.030 | 1.000 | 3 | 2008 | 2016 | |||
|
1 | 1.000 | 0.040 | 7 | 156468621 | intron variant | C/T | snv | 0.14 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 19 | 41018104 | 3 prime UTR variant | A/T | snv | 0.31 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.827 | 0.120 | 5 | 148826785 | 5 prime UTR variant | C/A;G;T | snv | 4.2E-06; 0.68 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
63 | 0.576 | 0.800 | 5 | 148826877 | missense variant | G/A | snv | 0.42 | 0.43 | 0.060 | 0.833 | 6 | 2010 | 2018 | |||
|
54 | 0.597 | 0.640 | 5 | 148826910 | stop gained | G/C;T | snv | 0.68 | 0.040 | 1.000 | 4 | 2012 | 2019 | ||||
|
3 | 1.000 | 0.040 | 1 | 218451191 | intergenic variant | T/C | snv | 0.33 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
10 | 0.752 | 0.280 | 6 | 31815730 | 5 prime UTR variant | G/A;C;T | snv | 0.39; 2.0E-05; 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.040 | 2 | 214283391 | intron variant | A/G | snv | 0.16 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.030 | 1.000 | 3 | 2010 | 2018 | ||||
|
2 | 1.000 | 0.040 | 1 | 196718199 | intron variant | A/T | snv | 0.44 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.040 | 5 | 148168700 | intron variant | G/A | snv | 0.10 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.851 | 0.160 | 19 | 10489766 | synonymous variant | G/C | snv | 0.41 | 0.48 | 0.010 | 1.000 | 1 | 2019 | 2019 |