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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 3 | 30668751 | intron variant | A/G | snv | 0.19 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||||
|
4 | 0.925 | 0.040 | 1 | 165749742 | intron variant | C/A | snv | 0.88 | 0.700 | 1.000 | 3 | 2012 | 2017 | ||||
|
5 | 0.882 | 0.040 | 17 | 10130362 | intron variant | C/A | snv | 0.36 | 0.700 | 1.000 | 2 | 2012 | 2017 | ||||
|
2 | 7 | 8112437 | upstream gene variant | G/T | snv | 0.15 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
4 | 0.925 | 0.040 | 17 | 10127866 | intron variant | A/G | snv | 0.32 | 0.700 | 1.000 | 6 | 2014 | 2018 | ||||
|
5 | 0.851 | 0.040 | 9 | 104933567 | downstream gene variant | G/A | snv | 0.61 | 0.700 | 1.000 | 3 | 2014 | 2018 | ||||
|
1 | 7 | 116510041 | downstream gene variant | C/A | snv | 0.28 | 0.700 | 1.000 | 2 | 2014 | 2017 | ||||||
|
4 | 0.925 | 0.040 | 3 | 172274597 | intron variant | G/A | snv | 0.24 | 0.700 | 1.000 | 2 | 2014 | 2017 | ||||
|
4 | 0.925 | 0.040 | 11 | 47919373 | intergenic variant | T/C | snv | 0.26 | 0.700 | 1.000 | 2 | 2014 | 2017 | ||||
|
2 | 1.000 | 0.040 | 11 | 47446993 | intron variant | C/T | snv | 0.61 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 6 | 51757651 | intron variant | T/C | snv | 0.53 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
2 | 15 | 37367848 | intron variant | C/A | snv | 0.69 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
4 | 0.925 | 0.040 | 1 | 165767643 | intron variant | C/T | snv | 0.89 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
7 | 1.000 | 0.040 | 9 | 133256028 | missense variant | C/T | snv | 0.12 | 0.11 | 0.700 | 1.000 | 1 | 2014 | 2014 | |||
|
2 | 1.000 | 0.040 | 11 | 120469674 | intron variant | G/A | snv | 0.20 | 0.700 | 1.000 | 3 | 2015 | 2018 | ||||
|
2 | 11 | 120422429 | intron variant | G/A | snv | 8.6E-02 | 0.700 | 1.000 | 2 | 2015 | 2018 | ||||||
|
1 | 11 | 120418990 | intron variant | T/C | snv | 0.21 | 0.700 | 1.000 | 2 | 2015 | 2017 | ||||||
|
1 | 11 | 120341714 | intron variant | A/G | snv | 0.19 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 11 | 120386786 | intron variant | A/G | snv | 0.20 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 11 | 120364851 | intron variant | T/C | snv | 0.21 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 11 | 120399540 | intron variant | A/G | snv | 0.19 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 11 | 120420428 | intron variant | C/G | snv | 0.20 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 11 | 120369228 | intron variant | A/G | snv | 0.20 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 11 | 120399461 | intron variant | A/G | snv | 0.21 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 11 | 120430095 | intron variant | T/A | snv | 0.20 | 0.700 | 1.000 | 1 | 2015 | 2015 |