| 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 | 1.000 | 0.040 | 12 | 120999579 | missense variant | A/G | snv | 1.00 | 0.99 | 0.020 | 1.000 | 2 | 2000 | 2002 | |||
|
3 | 1.000 | 0.040 | 21 | 43992991 | downstream gene variant | T/A;C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 0.040 | 2 | 164497436 | missense variant | T/C | snv | 2.1E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
9 | 1.000 | 0.040 | 7 | 151716108 | intron variant | T/C | snv | 0.21 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.040 | 9 | 84822934 | intron variant | A/G | snv | 0.40 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.040 | 1 | 161802188 | synonymous variant | C/T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 1.000 | 0.040 | 12 | 63150429 | missense variant | A/C;G;T | snv | 0.60; 1.2E-05 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1.000 | 0.040 | 6 | 139547773 | intron variant | T/C | snv | 0.15 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 1.000 | 0.040 | 2 | 192049636 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||
|
3 | 1.000 | 0.040 | 15 | 89665079 | 3 prime UTR variant | A/T | snv | 0.26 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.040 | 1 | 116384040 | synonymous variant | A/G | snv | 1.3E-03 | 1.4E-03 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
2 | 1.000 | 0.040 | 12 | 63144678 | 3 prime UTR variant | G/A | snv | 0.29 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1.000 | 0.040 | 9 | 122407651 | intron variant | C/T | snv | 0.62 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 1.000 | 0.040 | 5 | 34504693 | intergenic variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 1.000 | 0.040 | 15 | 62141763 | regulatory region variant | A/G | snv | 0.31 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 1.000 | 0.040 | 2 | 43650017 | intron variant | A/G | snv | 0.21 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 1.000 | 0.040 | 2 | 43636315 | upstream gene variant | A/C | snv | 0.17 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | 1 | 23559007 | missense variant | T/A;C | snv | 0.80 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 1.000 | 0.040 | 12 | 92782070 | missense variant | A/T | snv | 1.1E-02 | 3.3E-03 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
2 | 1.000 | 0.040 | 9 | 84804874 | intron variant | C/G | snv | 0.55 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
5 | 1.000 | 0.040 | 3 | 170999732 | intron variant | T/A | snv | 0.20 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 1.000 | 0.040 | X | 96302380 | intron variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
3 | 1.000 | 0.040 | 22 | 36281936 | 3 prime UTR variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 1.000 | 0.040 | 12 | 120978892 | missense variant | G/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 1.000 | 0.040 | 16 | 10977321 | synonymous variant | C/T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 |