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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.120 | 19 | 43554087 | intron variant | C/T | snv | 0.60 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.120 | 1 | 45330597 | intron variant | G/C | snv | 0.92 | 0.93 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
3 | 0.882 | 0.120 | 12 | 104319543 | missense variant | G/A | snv | 2.1E-05 | 3.5E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
3 | 0.882 | 0.120 | 17 | 73016334 | intron variant | G/C | snv | 0.73 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.120 | 7 | 17339533 | missense variant | G/A | snv | 7.8E-03 | 2.2E-02 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||
|
3 | 0.882 | 0.120 | 7 | 152684065 | intergenic variant | A/G | snv | 0.23 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
3 | 0.882 | 0.120 | 2 | 221196620 | intergenic variant | C/G | snv | 0.26 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.882 | 0.120 | X | 12889591 | 3 prime UTR variant | T/C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
3 | 0.882 | 0.120 | 19 | 29810916 | upstream gene variant | G/A | snv | 0.30 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.882 | 0.120 | 8 | 22540949 | 3 prime UTR variant | G/A | snv | 0.56 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.120 | 11 | 67584520 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 0.882 | 0.120 | 3 | 49358109 | missense variant | G/A | snv | 4.1E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.882 | 0.120 | 8 | 42449295 | intron variant | T/C | snv | 0.24 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.882 | 0.120 | 15 | 74577097 | intron variant | T/C | snv | 6.6E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.120 | 1 | 150966095 | 3 prime UTR variant | G/A | snv | 0.35 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.120 | 14 | 103706470 | 3 prime UTR variant | C/A | snv | 0.32 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.120 | 8 | 41311757 | upstream gene variant | T/C | snv | 0.31 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
3 | 0.882 | 0.120 | 22 | 25588025 | intron variant | C/T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
3 | 0.882 | 0.120 | 17 | 73014881 | intron variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
4 | 0.851 | 0.200 | 3 | 189928144 | intergenic variant | T/C | snv | 0.24 | 0.040 | 1.000 | 4 | 2009 | 2018 | ||||
|
4 | 0.851 | 0.160 | 10 | 102901727 | 3 prime UTR variant | T/C | snv | 0.30 | 0.020 | 1.000 | 2 | 2018 | 2018 | ||||
|
4 | 0.882 | 0.120 | 12 | 12259861 | intron variant | T/A;C;G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
4 | 0.851 | 0.160 | 1 | 163076561 | 3 prime UTR variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
4 | 0.851 | 0.160 | 1 | 24951491 | intron variant | C/T | snv | 0.48 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
4 | 0.851 | 0.200 | 6 | 43762907 | regulatory region variant | A/T | snv | 0.15 | 0.010 | 1.000 | 1 | 2007 | 2007 |