| 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 | 21 | 38447907 | intron variant | C/A;T | snv | 0.720 | 1.000 | 3 | 2017 | 2020 | |||||
|
1 | 1.000 | 0.040 | 1 | 214235937 | intergenic variant | T/C;G | snv | 0.710 | 0.500 | 2 | 2017 | 2020 | |||||
|
1 | 1.000 | 0.040 | 13 | 22287782 | intergenic variant | A/G | snv | 0.22 | 0.710 | 0.500 | 2 | 2017 | 2020 | ||||
|
63 | 0.568 | 0.800 | 17 | 34252769 | upstream gene variant | A/G | snv | 0.28 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
2 | 0.925 | 0.040 | 20 | 45957384 | intron variant | C/T | snv | 0.12 | 0.010 | < 0.001 | 1 | 2020 | 2020 | ||||
|
5 | 0.827 | 0.120 | 17 | 1754359 | missense variant | G/A | snv | 0.22 | 0.20 | 0.020 | 1.000 | 2 | 2014 | 2019 | |||
|
57 | 0.602 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv | 0.38; 1.2E-05 | 0.020 | 1.000 | 2 | 2013 | 2019 | ||||
|
13 | 0.752 | 0.320 | 11 | 102955810 | upstream gene variant | C/T | snv | 0.68 | 0.020 | 1.000 | 2 | 2014 | 2019 | ||||
|
54 | 0.602 | 0.680 | 20 | 46007337 | upstream gene variant | C/T | snv | 0.14 | 0.020 | 1.000 | 2 | 2014 | 2019 | ||||
|
2 | 0.925 | 0.160 | 15 | 48515402 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
16 | 0.763 | 0.240 | 1 | 55030366 | intergenic variant | T/A;C;G | snv | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||||
|
4 | 0.851 | 0.120 | 6 | 22004398 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
31 | 0.645 | 0.520 | 4 | 153704936 | missense variant | C/T | snv | 8.8E-05 | 9.8E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
12 | 0.807 | 0.240 | 5 | 75360714 | 3 prime UTR variant | T/C;G | snv | 0.37 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | 20 | 46008773 | upstream gene variant | ACACACACACACACACACACACAC/-;AC;ACAC;ACACAC;ACACACAC;ACACACACAC;ACACACACACAC;ACACACACACACAC;ACACACACACACACAC;ACACACACACACACACAC;ACACACACACACACACACAC;ACACACACACACACACACACAC;ACACACACACACACACACACACACAC;ACACACACACACACACACACACACACAC;ACACACACACACACACACACACACACACAC;ACACACACACACACACACACACACACACACAC;ACACACACACACACACACACACACACACACACAC | delins | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
4 | 1.000 | 0.040 | 1 | 55038977 | upstream gene variant | G/A | snv | 0.66 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
26 | 0.732 | 0.280 | 16 | 56959412 | upstream gene variant | C/A | snv | 0.31 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
98 | 0.525 | 0.800 | 4 | 153705165 | missense variant | G/A | snv | 1.7E-02 | 1.8E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.060 | 0.500 | 6 | 2003 | 2017 | |||
|
15 | 0.790 | 0.120 | 19 | 11091630 | intron variant | G/T | snv | 0.12 | 0.810 | 1.000 | 2 | 2013 | 2017 | ||||
|
22 | 0.701 | 0.320 | 9 | 22096056 | intron variant | A/G | snv | 0.41 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 9 | 121662964 | intron variant | C/T | snv | 0.17 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
46 | 0.602 | 0.680 | 1 | 159712443 | 3 prime UTR variant | C/T | snv | 0.30 | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||
|
3 | 0.925 | 0.040 | 1 | 154455807 | intron variant | A/G | snv | 0.44 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 2 | 20682689 | upstream gene variant | A/G;T | snv | 0.59 | 0.700 | 1.000 | 1 | 2017 | 2017 |