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 | 0.080 | 4 | 99412110 | downstream gene variant | G/A | snv | 0.78 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
19 | 0.701 | 0.360 | 9 | 97697296 | 5 prime UTR variant | T/C;G | snv | 0.63; 4.5E-06; 4.5E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.080 | 9 | 97675205 | 3 prime UTR variant | G/T | snv | 3.8E-02 | 2.3E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
147 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
3 | 0.882 | 0.080 | 2 | 96115494 | missense variant | T/C | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
6 | 0.851 | 0.120 | 15 | 92443898 | intron variant | A/G | snv | 0.44 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
6 | 0.851 | 0.120 | 15 | 92440492 | intron variant | A/G | snv | 0.33 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
21 | 0.732 | 0.160 | 4 | 89835580 | missense variant | C/G | snv | 0.060 | 1.000 | 6 | 2003 | 2018 | |||||
|
59 | 0.614 | 0.360 | 4 | 89828149 | missense variant | C/T | snv | 0.050 | 1.000 | 5 | 2003 | 2018 | |||||
|
4 | 0.851 | 0.080 | 4 | 89726127 | 3 prime UTR variant | G/A | snv | 4.7E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.882 | 0.080 | 15 | 88184270 | missense variant | G/A | snv | 8.0E-05 | 4.4E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
5 | 0.827 | 0.160 | 3 | 87253472 | stop gained | C/T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
3 | 0.882 | 0.080 | 4 | 8616210 | intron variant | C/T | snv | 0.23 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.080 | 4 | 8611299 | intron variant | G/A | snv | 0.26 | 0.32 | 0.710 | 1.000 | 2 | 2017 | 2018 | |||
|
6 | 0.807 | 0.120 | 4 | 85994925 | missense variant | C/T | snv | 2.8E-05 | 4.9E-05 | 0.020 | 1.000 | 2 | 1999 | 2001 | |||
|
4 | 0.882 | 0.080 | 4 | 85931021 | missense variant | C/T | snv | 2.0E-05 | 3.5E-05 | 0.010 | < 0.001 | 1 | 2001 | 2001 | |||
|
3 | 0.882 | 0.080 | 4 | 85570622 | synonymous variant | G/A | snv | 1.6E-05 | 0.010 | < 0.001 | 1 | 2001 | 2001 | ||||
|
3 | 0.882 | 0.080 | 9 | 8341203 | missense variant | G/T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.080 | 11 | 8256650 | intron variant | C/T | snv | 0.49 | 0.040 | 1.000 | 4 | 2016 | 2020 | ||||
|
7 | 0.827 | 0.200 | 11 | 8233861 | intron variant | C/A | snv | 0.24 | 0.730 | 1.000 | 4 | 2017 | 2020 | ||||
|
3 | 0.882 | 0.080 | 11 | 8233559 | intron variant | G/A | snv | 0.41 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.080 | 11 | 8231502 | intron variant | T/C | snv | 0.42 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
8 | 0.827 | 0.200 | 11 | 8231306 | intron variant | A/G | snv | 0.42 | 0.850 | 1.000 | 7 | 2011 | 2020 | ||||
|
3 | 0.882 | 0.080 | 11 | 8230374 | synonymous variant | G/C;T | snv | 0.45; 4.8E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.080 | 11 | 8221479 | downstream gene variant | A/G | snv | 0.49 | 0.040 | 1.000 | 4 | 2016 | 2020 |