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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
8 | 1.000 | 0.080 | 2 | 113083453 | upstream gene variant | A/G | snv | 0.39 | 0.800 | 1.000 | 3 | 2013 | 2017 | ||||
|
3 | 7 | 36044919 | intron variant | T/C | snv | 0.29 | 0.700 | 1.000 | 2 | 2016 | 2017 | ||||||
|
3 | 21 | 39093586 | regulatory region variant | G/T | snv | 0.22 | 0.800 | 1.000 | 2 | 2013 | 2017 | ||||||
|
3 | 22 | 50663510 | intergenic variant | A/C | snv | 0.20 | 0.800 | 1.000 | 2 | 2013 | 2017 | ||||||
|
2 | 8 | 9315848 | intron variant | G/A;T | snv | 0.700 | 1.000 | 2 | 2016 | 2017 | |||||||
|
1 | 21 | 39094542 | intergenic variant | G/A | snv | 0.21 | 0.700 | 1.000 | 2 | 2016 | 2017 | ||||||
|
3 | 4 | 154599476 | downstream gene variant | G/A | snv | 5.2E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
4 | 5 | 132408882 | upstream gene variant | T/C | snv | 0.20 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||||
|
3 | 7 | 17957989 | upstream gene variant | T/C | snv | 0.46 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
7 | 3 | 136206349 | upstream gene variant | T/A | snv | 0.76 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
3 | 4 | 154530607 | downstream gene variant | T/A | snv | 0.18 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 7 | 17954871 | intergenic variant | G/A | snv | 0.40 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 5 | 132532143 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
3 | 1 | 65652146 | intergenic variant | A/C | snv | 0.43 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 14 | 68828731 | intergenic variant | T/C | snv | 0.24 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 14 | 68821715 | intergenic variant | A/G | snv | 0.24 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 1 | 65658091 | intergenic variant | A/G | snv | 0.43 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 10 | 121080764 | regulatory region variant | G/A | snv | 0.25 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 1.000 | 0.080 | X | 122083259 | intergenic variant | T/A;C;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 14 | 68806373 | intergenic variant | A/G | snv | 0.25 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
3 | 14 | 68847342 | intergenic variant | G/A | snv | 0.27 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
3 | 4 | 154574381 | downstream gene variant | T/C | snv | 0.15 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
3 | 4 | 154560137 | upstream gene variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1 | 1 | 65687680 | regulatory region variant | C/G | snv | 0.34 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 3 | 136232079 | intergenic variant | A/G;T | snv | 0.800 | 1.000 | 1 | 2009 | 2009 |