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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
13 | 0.763 | 0.320 | 12 | 111472415 | intron variant | A/G | snv | 0.66 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 3 | 14836067 | intron variant | A/G | snv | 0.12 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 10 | 44001523 | intergenic variant | T/C | snv | 0.58 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 6 | 81993618 | intron variant | C/T | snv | 0.31 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | 9 | 121650669 | intron variant | T/G | snv | 0.21 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 1 | 3020251 | upstream gene variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.040 | 7 | 6406396 | downstream gene variant | A/G | snv | 0.15 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 9 | 13724052 | intron variant | A/T | snv | 0.12 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.925 | 0.080 | 9 | 22023796 | intron variant | T/A;C;G | snv | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||
|
4 | 0.882 | 0.120 | 9 | 22029446 | missense variant | G/A | snv | 0.55 | 0.46 | 0.700 | 1.000 | 1 | 2007 | 2007 | |||
|
4 | 0.882 | 0.080 | 9 | 22053688 | intron variant | A/G | snv | 0.58 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.040 | 9 | 22082381 | intron variant | A/G | snv | 6.5E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 9 | 111690726 | intron variant | G/A | snv | 0.11 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 11 | 13271635 | regulatory region variant | T/C | snv | 0.32 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
5 | 0.925 | 0.040 | 11 | 16895672 | intron variant | T/C | snv | 0.29 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 11 | 10723847 | upstream gene variant | G/T | snv | 0.59 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 12 | 124831509 | intron variant | A/C | snv | 0.16 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 12 | 124832197 | intron variant | C/T | snv | 0.18 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.040 | 15 | 78714240 | intron variant | T/C | snv | 0.57 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.040 | 15 | 78839988 | intron variant | A/C | snv | 0.51 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 17 | 29611406 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.040 | 4 | 81665896 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.040 | 12 | 95114195 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.040 | 15 | 41144539 | intergenic variant | A/G | snv | 0.32 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
10 | 0.882 | 0.080 | 12 | 57133500 | intron variant | T/C | snv | 0.42 | 0.700 | 1.000 | 1 | 2018 | 2018 |