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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
7 | 0.827 | 0.320 | 7 | 5528536 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 1.000 | 0.040 | 14 | 54844023 | missense variant | C/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 1999 | 1999 | ||||
|
3 | 1.000 | 19 | 35720980 | stop gained | C/T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
3 | 1.000 | 19 | 35721775 | stop gained | C/T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
7 | 0.851 | 0.080 | 17 | 68386068 | intron variant | T/C | snv | 0.18 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 1.000 | 0.040 | 2 | 178436264 | missense variant | G/A | snv | 9.9E-05 | 9.1E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
5 | 0.925 | 0.080 | 22 | 38115667 | missense variant | G/A | snv | 9.0E-06 | 2.1E-05 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
5 | 0.925 | 0.040 | 11 | 2167896 | missense variant | A/G | snv | 1.2E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 1999 | 1999 | |||
|
4 | 9 | 2641436 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
2 | 2 | 190208898 | missense variant | G/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 9 | 129818877 | missense variant | G/A;C | snv | 3.0E-04; 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 8 | 42843038 | synonymous variant | G/A | snv | 7.6E-05 | 1.5E-04 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
7 | 0.925 | 0.040 | 19 | 29702747 | missense variant | T/C | snv | 2.3E-03 | 1.1E-03 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
2 | 9 | 129814009 | missense variant | G/A | snv | 8.0E-06; 1.2E-05 | 3.5E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
97 | 0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
5 | 1.000 | 0.160 | 8 | 60266044 | missense variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
8 | 0.851 | 0.120 | 12 | 40340380 | missense variant | T/C | snv | 3.2E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
2 | 9 | 129813558 | 3 prime UTR variant | C/- | del | 0.14 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
4 | 0.925 | 0.120 | 8 | 42838177 | missense variant | T/C | snv | 5.2E-05 | 5.6E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
5 | 0.925 | 0.080 | 19 | 29708415 | missense variant | G/A | snv | 8.0E-06 | 2.8E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
3 | 1.000 | 0.080 | 1 | 32893848 | missense variant | G/A | snv | 4.9E-04 | 7.0E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
2 | 1 | 32888928 | synonymous variant | C/T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 18 | 11689847 | missense variant | T/C | snv | 2.2E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
4 | 1.000 | 0.040 | 21 | 25975997 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 |