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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.040 | 10 | 126084807 | intron variant | A/G | snv | 0.61 | 0.700 | 1.000 | 2 | 2016 | 2016 | ||||
|
2 | 1.000 | 0.040 | X | 7256158 | intron variant | G/A | snv | 7.1E-02 | 0.020 | 1.000 | 2 | 2008 | 2011 | ||||
|
3 | 0.925 | 0.040 | 9 | 90646879 | upstream gene variant | T/A;G | snv | 0.020 | 1.000 | 2 | 2011 | 2016 | |||||
|
2 | 0.925 | 0.040 | 5 | 43054645 | intron variant | A/G | snv | 0.700 | 1.000 | 2 | 2018 | 2019 | |||||
|
1 | 1.000 | 0.040 | 16 | 55697663 | intron variant | G/T | snv | 0.29 | 0.020 | 1.000 | 2 | 2015 | 2019 | ||||
|
2 | 1.000 | 0.040 | X | 7336440 | intron variant | C/G | snv | 0.22 | 0.020 | 1.000 | 2 | 2011 | 2017 | ||||
|
12 | 0.790 | 0.160 | 10 | 111076745 | upstream gene variant | G/C | snv | 0.59 | 0.020 | 1.000 | 2 | 2010 | 2014 | ||||
|
8 | 0.827 | 0.160 | 11 | 636784 | upstream gene variant | T/C;G | snv | 0.020 | 1.000 | 2 | 2011 | 2013 | |||||
|
93 | 0.535 | 0.840 | 1 | 11794419 | missense variant | T/G | snv | 0.29 | 0.26 | 0.020 | 1.000 | 2 | 2014 | 2018 | |||
|
174 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 0.020 | 1.000 | 2 | 2014 | 2017 | |||
|
28 | 0.695 | 0.280 | 4 | 55435202 | 3 prime UTR variant | A/G | snv | 0.25 | 0.020 | 1.000 | 2 | 2008 | 2010 | ||||
|
135 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 0.020 | 1.000 | 2 | 2017 | 2018 | |||
|
1 | 1.000 | 0.040 | 12 | 79203668 | intron variant | G/T | snv | 0.70 | 0.020 | 1.000 | 2 | 2017 | 2018 | ||||
|
17 | 0.827 | 0.200 | 15 | 65021533 | missense variant | G/A | snv | 3.5E-04 | 5.7E-04 | 0.700 | 1.000 | 2 | 2011 | 2014 | |||
|
2 | 0.925 | 0.160 | 7 | 73708593 | synonymous variant | A/G | snv | 0.51 | 0.53 | 0.020 | 1.000 | 2 | 2017 | 2018 | |||
|
52 | 0.614 | 0.640 | 14 | 64442127 | missense variant | G/A | snv | 0.44 | 0.38 | 0.020 | 1.000 | 2 | 2014 | 2017 | |||
|
3 | 0.925 | 0.040 | 1 | 96513405 | regulatory region variant | A/G;T | snv | 0.700 | 1.000 | 2 | 2019 | 2019 | |||||
|
2 | 1.000 | 0.040 | 9 | 133644512 | intron variant | T/C | snv | 0.40 | 0.020 | 1.000 | 2 | 2006 | 2010 | ||||
|
9 | 0.827 | 0.040 | 3 | 52799203 | intron variant | G/A;C | snv | 0.810 | 1.000 | 2 | 2013 | 2015 | |||||
|
2 | 0.925 | 0.040 | 5 | 1446274 | upstream gene variant | A/G | snv | 0.51 | 0.020 | 1.000 | 2 | 2009 | 2014 | ||||
|
2 | 1.000 | 0.040 | 5 | 1412530 | intron variant | C/A;G;T | snv | 0.020 | 1.000 | 2 | 2011 | 2018 | |||||
|
6 | 0.827 | 0.080 | 16 | 55652906 | upstream gene variant | T/A;C | snv | 0.020 | 1.000 | 2 | 2012 | 2018 | |||||
|
18 | 0.724 | 0.320 | 7 | 34778501 | missense variant | A/T | snv | 0.44 | 0.47 | 0.020 | 0.500 | 2 | 2014 | 2015 | |||
|
1 | 1.000 | 0.040 | 16 | 55697132 | intron variant | G/A | snv | 3.6E-02 | 0.020 | 1.000 | 2 | 2015 | 2019 | ||||
|
2 | 0.925 | 0.040 | 3 | 7625097 | intron variant | C/T | snv | 0.15 | 0.020 | 1.000 | 2 | 2013 | 2014 |