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 | 0.925 | 0.040 | 17 | 58279033 | missense variant | T/C | snv | 4.1E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
2 | 0.925 | 0.040 | 8 | 19960927 | missense variant | A/C;G | snv | 1.6E-05 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.882 | 0.040 | 8 | 58505103 | upstream gene variant | A/T | snv | 0.55 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.040 | 11 | 18269755 | missense variant | G/A | snv | 2.1E-03 | 8.0E-04 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
3 | 0.882 | 0.040 | 15 | 89030987 | intergenic variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 0.925 | 0.040 | 1 | 11789412 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
6 | 0.807 | 0.080 | 4 | 168756335 | non coding transcript exon variant | G/A | snv | 0.44 | 0.020 | 1.000 | 2 | 2007 | 2011 | ||||
|
4 | 0.851 | 0.080 | 12 | 12164494 | missense variant | G/A | snv | 1.6E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 0.851 | 0.080 | 10 | 45373723 | upstream gene variant | T/C | snv | 0.17 | 0.010 | < 0.001 | 1 | 2008 | 2008 | ||||
|
4 | 0.882 | 0.080 | 1 | 176206716 | missense variant | C/T | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.882 | 0.080 | 3 | 12416849 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.080 | 1 | 150579475 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
9 | 0.790 | 0.080 | 5 | 80065442 | missense variant | G/C | snv | 0.17 | 0.17 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
4 | 0.851 | 0.080 | 17 | 64309731 | upstream gene variant | C/T | snv | 0.65 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.080 | 3 | 186854295 | missense variant | A/G | snv | 6.4E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
9 | 0.827 | 0.080 | 15 | 33613209 | missense variant | A/G | snv | 0.23 | 0.21 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
5 | 0.851 | 0.080 | 1 | 154465420 | 3 prime UTR variant | T/A;C | snv | 0.80 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
6 | 0.807 | 0.080 | 1 | 7929506 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
6 | 0.851 | 0.080 | 1 | 55063542 | stop gained | C/A;T | snv | 5.6E-04 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
5 | 0.882 | 0.080 | 19 | 8364115 | intron variant | C/G | snv | 0.25 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
5 | 0.827 | 0.080 | 6 | 160722576 | intron variant | T/C;G | snv | 0.21 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
7 | 0.827 | 0.080 | 13 | 110308365 | intron variant | A/G | snv | 0.42 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.882 | 0.080 | 1 | 154405422 | 5 prime UTR variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
4 | 0.882 | 0.080 | 4 | 184805394 | intron variant | C/T | snv | 0.37 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.080 | 2 | 113132839 | missense variant | G/C | snv | 2.0E-05 | 0.010 | 1.000 | 1 | 2003 | 2003 |