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 | 0.851 | 0.040 | 18 | 55399097 | intron variant | A/C | snv | 6.3E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.040 | 6 | 31383745 | upstream gene variant | A/C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 1.000 | 0.040 | 6 | 32584671 | intron variant | A/C | snv | 0.12 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.040 | 9 | 23358877 | intron variant | A/C | snv | 0.32 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.040 | 6 | 32522469 | intron variant | A/C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 1.000 | 0.040 | 6 | 32185632 | 3 prime UTR variant | A/C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 1.000 | 0.040 | 4 | 42121711 | intron variant | A/C | snv | 0.23 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.040 | 6 | 32522589 | intron variant | A/C | snv | 4.8E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.040 | 11 | 24377044 | intergenic variant | A/C | snv | 0.45 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.040 | 9 | 82184622 | intron variant | A/C | snv | 0.33 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
5 | 1.000 | 0.040 | 4 | 102225731 | intergenic variant | A/C | snv | 5.4E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 1.000 | 0.040 | 8 | 142231572 | intron variant | A/C | snv | 0.68 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.040 | 11 | 113541721 | intergenic variant | A/C | snv | 0.76 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.925 | 0.040 | 2 | 184947213 | intergenic variant | A/C | snv | 0.34 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1 | 98627228 | intergenic variant | A/C | snv | 0.37 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 1.000 | 0.040 | 8 | 142252164 | intron variant | A/C | snv | 0.21 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
16 | 0.742 | 0.320 | 6 | 30064745 | 3 prime UTR variant | A/C | snv | 5.4E-02 | 5.9E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||
|
2 | 1.000 | 0.040 | 6 | 26332377 | upstream gene variant | A/C | snv | 0.23 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 8 | 130459801 | intergenic variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
5 | 0.851 | 0.040 | 16 | 89675088 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 1.000 | 0.040 | 14 | 71920923 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1 | 193533479 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
2 | 1.000 | 0.040 | 5 | 89131520 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 1.000 | 0.040 | 6 | 29842049 | intergenic variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 1.000 | 0.040 | 6 | 33343402 | downstream gene variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 |