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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
19 | 0.708 | 0.240 | 11 | 113932306 | missense variant | A/C | snv | 0.33 | 0.36 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
1 | 1.000 | 0.040 | 9 | 4574022 | splice region variant | A/C | snv | 0.11 | 8.5E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
2 | 0.925 | 0.040 | 1 | 34864921 | downstream gene variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.040 | 9 | 11890045 | intron variant | A/C;G;T | snv | 0.800 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 0.925 | 0.040 | 21 | 33027093 | synonymous variant | A/G | snv | 0.51 | 0.53 | 0.030 | 1.000 | 3 | 2007 | 2019 | |||
|
2 | 0.925 | 0.040 | 12 | 61858476 | intron variant | A/G | snv | 0.49 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | < 0.001 | 1 | 2020 | 2020 | |||
|
1 | 1.000 | 0.040 | 3 | 184100530 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
95 | 0.559 | 0.600 | 6 | 154039662 | missense variant | A/G | snv | 0.19 | 0.12 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
1 | 1.000 | 0.040 | 14 | 77817693 | intron variant | A/G | snv | 0.86 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 1 | 153493087 | intergenic variant | A/G | snv | 0.18 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 17 | 44346297 | intron variant | A/G | snv | 0.28 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
1 | 1.000 | 0.040 | 11 | 18022863 | synonymous variant | A/G | snv | 6.0E-03 | 6.4E-03 | 0.010 | 1.000 | 1 | 1999 | 1999 | |||
|
1 | 1.000 | 0.040 | 20 | 12014779 | intergenic variant | A/G | snv | 0.79 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 10 | 26280826 | intron variant | A/G | snv | 0.44 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 3 | 1895465 | intergenic variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.040 | 12 | 49925303 | non coding transcript exon variant | A/G;T | snv | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.040 | 1 | 34894477 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.040 | 14 | 59440374 | intron variant | A/T | snv | 0.55 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
18 | 0.724 | 0.320 | 7 | 34778501 | missense variant | A/T | snv | 0.44 | 0.47 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 1.000 | 0.040 | 20 | 12018497 | intergenic variant | A/T | snv | 0.79 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.925 | 0.040 | 21 | 33028155 | 3 prime UTR variant | C/A | snv | 0.41 | 0.020 | 1.000 | 2 | 2007 | 2015 | ||||
|
1 | 1.000 | 0.040 | 2 | 118939624 | upstream gene variant | C/A | snv | 6.4E-03 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 1.000 | 0.040 | 6 | 79547564 | intergenic variant | C/A | snv | 8.2E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.040 | 4 | 54619021 | intergenic variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 |