| 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 | 7 | 20505116 | intergenic variant | T/A | snv | 0.22 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
5 | 0.925 | 0.200 | 21 | 35343463 | intron variant | C/G;T | snv | 0.700 | 1.000 | 2 | 2016 | 2019 | |||||
|
10 | 0.827 | 0.120 | 21 | 39091357 | intergenic variant | G/A | snv | 0.22 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 21 | 44243096 | upstream gene variant | C/G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 4 | 37925766 | intron variant | A/G | snv | 0.50 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 18 | 59419702 | intergenic variant | G/A | snv | 0.44 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 16 | 3471071 | intron variant | T/C | snv | 7.6E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
13 | 20 | 16755400 | intron variant | G/T | snv | 0.16 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 17 | 39787478 | intron variant | C/A | snv | 0.10 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 3 | 48683607 | intron variant | A/G | snv | 0.83 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 17 | 4701541 | intron variant | T/C | snv | 0.33 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
3 | 17 | 75805073 | intron variant | T/A;C;G | snv | 0.700 | 1.000 | 2 | 2016 | 2019 | |||||||
|
1 | 17 | 27762239 | intron variant | C/T | snv | 0.48 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
3 | 17 | 49320708 | intron variant | T/A | snv | 0.28 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
5 | 1.000 | 0.040 | 3 | 128578726 | upstream gene variant | G/A;C | snv | 0.31 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 3 | 42855023 | intron variant | T/A | snv | 0.37 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 3 | 112334080 | intron variant | G/T | snv | 0.44 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 3 | 25340145 | intron variant | T/C | snv | 0.43 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 3 | 98718296 | intron variant | A/G | snv | 0.33 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 3 | 16869827 | intron variant | G/A | snv | 0.76 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 3 | 196822218 | intron variant | G/A | snv | 0.53 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
5 | 3 | 141487958 | intron variant | C/T | snv | 4.7E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 3 | 188723373 | intron variant | C/T | snv | 0.21 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 3 | 169769713 | non coding transcript exon variant | T/C | snv | 0.29 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 1.000 | 0.080 | 2 | 102354740 | intron variant | T/C;G | snv | 0.46 | 0.700 | 1.000 | 1 | 2019 | 2019 |