| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.120 | 6 | 106150148 | intron variant | G/A | snv | 0.47 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.080 | 19 | 35648270 | upstream gene variant | G/A | snv | 9.7E-02 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.080 | 8 | 53251002 | synonymous variant | C/A;T | snv | 0.11 |
|
0.010 | < 0.001 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 11 | 284257 | synonymous variant | G/A;C | snv | 0.16; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 17 | 39725161 | missense variant | T/G | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.080 | 1 | 145995155 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.080 | 14 | 20788017 | downstream gene variant | G/C | snv | 7.4E-02 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | X | 67711662 | missense variant | G/A | snv | 9.5E-06 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.080 | 16 | 56834788 | intron variant | A/G | snv | 0.47 | 0.47 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.080 | 5 | 157208978 | synonymous variant | T/C | snv | 1.6E-04 | 7.8E-04 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.080 | 6 | 160348669 | missense variant | C/T | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.120 | 4 | 121154648 | missense variant | T/C | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 3 | 72447740 | upstream gene variant | G/A;C;T | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.080 | 10 | 113580733 | intron variant | G/A;C | snv | 0.57; 8.2E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 19 | 45409148 | missense variant | G/A | snv | 0.21 | 0.19 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1.000 | 0.120 | 21 | 37749345 | intron variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.080 | 5 | 1255405 | synonymous variant | G/A | snv | 0.13 | 9.0E-02 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.080 | 11 | 35166644 | intron variant | G/A | snv | 0.33 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.120 | 4 | 54278512 | missense variant | G/A | snv | 8.0E-06 | 2.1E-05 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1.000 | 0.080 | 10 | 113574365 | synonymous variant | C/T | snv | 0.63 | 0.55 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.080 | 6 | 106238552 | intron variant | A/G | snv | 0.15 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.120 | 11 | 119317205 | intron variant | C/A;T | snv | 7.1E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 7 | 116796211 | 3 prime UTR variant | G/A | snv | 2.5E-03 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 16 | 56830706 | intron variant | C/T | snv | 0.48 | 0.48 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.120 | 21 | 31390097 | intron variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 |