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 | 7 | 93889174 | synonymous variant | C/T | snv | 5.8E-02 | 5.9E-02 | 0.020 | 1.000 | 2 | 2015 | 2019 | |||
|
1 | 1.000 | 0.040 | 16 | 81238301 | upstream gene variant | C/G | snv | 0.38 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 4 | 165484478 | missense variant | C/G;T | snv | 1.2E-05; 3.8E-04 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.040 | 4 | 24800354 | 3 prime UTR variant | T/C | snv | 0.50 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 7 | 93886765 | 3 prime UTR variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.040 | 4 | 165484432 | synonymous variant | C/T | snv | 6.2E-02 | 4.5E-02 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
1 | 1.000 | 0.040 | 7 | 93891949 | intron variant | G/C | snv | 0.27 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.080 | 11 | 44067827 | missense variant | G/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.120 | 8 | 90042781 | missense variant | C/T | snv | 5.5E-04 | 7.7E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
2 | 0.925 | 0.040 | 19 | 4521613 | upstream gene variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.882 | 0.040 | 21 | 28883961 | intron variant | A/C;G | snv | 0.020 | 1.000 | 2 | 2017 | 2018 | |||||
|
3 | 0.882 | 0.040 | 1 | 169549874 | missense variant | C/T | snv | 0.11 | 0.12 | 0.020 | 1.000 | 2 | 2000 | 2000 | |||
|
3 | 0.882 | 0.040 | 2 | 27222595 | missense variant | G/A | snv | 1.2E-05 | 0.020 | 1.000 | 2 | 2002 | 2006 | ||||
|
3 | 0.882 | 0.040 | 1 | 247443750 | intron variant | G/A | snv | 0.57 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
3 | 0.882 | 0.040 | 10 | 89247582 | missense variant | C/T | snv | 9.5E-02 | 0.13 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
3 | 0.882 | 0.040 | 1 | 162199478 | intron variant | G/A | snv | 0.16 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.882 | 0.040 | 1 | 230063651 | intron variant | C/T | snv | 0.28 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.040 | 8 | 75012585 | intron variant | A/C | snv | 0.33 | 0.44 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
3 | 0.882 | 0.040 | 9 | 69340801 | intron variant | A/G | snv | 0.12 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.040 | 7 | 93525009 | intron variant | A/G;T | snv | 0.27 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.040 | 15 | 45111550 | synonymous variant | G/A | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 0.882 | 0.040 | 1 | 205515245 | intron variant | C/T | snv | 1.5E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.040 | 6 | 31577502 | missense variant | T/C | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.882 | 0.040 | 8 | 27605112 | missense variant | C/G;T | snv | 7.2E-05 | 1.0E-04 | 0.010 | 1.000 | 1 | 1998 | 1998 | |||
|
3 | 0.882 | 0.040 | 2 | 8791221 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2010 | 2010 |