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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
26 | 0.732 | 0.280 | 16 | 56959412 | upstream gene variant | C/A | snv | 0.31 | 0.860 | 1.000 | 8 | 2010 | 2018 | ||||
|
10 | 0.882 | 0.080 | 8 | 19986711 | intergenic variant | A/G | snv | 1.0E-01 | 0.040 | 0.750 | 4 | 2014 | 2019 | ||||
|
1 | 1.000 | 0.040 | 1 | 196972363 | downstream gene variant | T/C | snv | 0.62 | 0.710 | 1.000 | 4 | 2011 | 2013 | ||||
|
63 | 0.568 | 0.800 | 17 | 34252769 | upstream gene variant | A/G | snv | 0.28 | 0.020 | 1.000 | 2 | 2016 | 2018 | ||||
|
2 | 1.000 | 0.040 | 1 | 196610909 | upstream gene variant | G/A;C | snv | 0.700 | 1.000 | 2 | 2013 | 2013 | |||||
|
3 | 1.000 | 0.040 | 1 | 196615338 | intergenic variant | G/A | snv | 0.23 | 0.700 | 1.000 | 2 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 1 | 197015549 | intergenic variant | A/G;T | snv | 0.700 | 1.000 | 2 | 2011 | 2013 | |||||
|
4 | 0.851 | 0.040 | 1 | 196644043 | intergenic variant | T/C | snv | 7.7E-03 | 0.710 | 1.000 | 2 | 2016 | 2018 | ||||
|
2 | 0.925 | 0.120 | 1 | 196855643 | intron variant | T/C | snv | 0.23 | 0.710 | 1.000 | 2 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 1 | 196874041 | intron variant | G/A | snv | 0.22 | 0.700 | 1.000 | 2 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 1 | 196874290 | intron variant | C/A | snv | 0.22 | 0.700 | 1.000 | 2 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 1 | 196874919 | intron variant | C/T | snv | 0.21 | 0.700 | 1.000 | 2 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 1 | 196875037 | intron variant | A/G | snv | 0.21 | 0.700 | 1.000 | 2 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 1 | 196875062 | intron variant | T/C | snv | 0.21 | 0.700 | 1.000 | 2 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 1 | 196875205 | intron variant | T/C | snv | 0.23 | 0.700 | 1.000 | 2 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 1 | 196875463 | intron variant | A/C;G | snv | 0.38 | 0.700 | 1.000 | 2 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 1 | 196968406 | upstream gene variant | T/C | snv | 0.65 | 0.700 | 1.000 | 2 | 2011 | 2013 | ||||
|
1 | 1.000 | 0.040 | 1 | 197011530 | downstream gene variant | T/C | snv | 0.38 | 0.700 | 1.000 | 2 | 2010 | 2013 | ||||
|
2 | 1.000 | 0.040 | 1 | 196870033 | intron variant | G/T | snv | 0.19 | 0.700 | 1.000 | 2 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 1 | 196870300 | intron variant | T/C | snv | 0.23 | 0.700 | 1.000 | 2 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.040 | 1 | 196854483 | intron variant | A/G | snv | 0.23 | 0.700 | 1.000 | 2 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 2 | 12822189 | intron variant | A/G;T | snv | 0.68 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 1 | 196876143 | intron variant | A/G | snv | 0.21 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 10 | 122360941 | intergenic variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.040 | 1 | 196851794 | intron variant | T/G | snv | 0.41 | 0.700 | 1.000 | 1 | 2013 | 2013 |