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 | 1.000 | 0.040 | 1 | 247425248 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
5 | 11 | 119090043 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||||
|
8 | 0.882 | 0.160 | 9 | 133426240 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
8 | 0.882 | 0.160 | 9 | 133442718 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
5 | 0.925 | 0.120 | 21 | 34834536 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
6 | 0.925 | 0.160 | 16 | 88646212 | non coding transcript exon variant | G/C | snv | 0.700 | 0 | ||||||||
|
5 | 0.925 | 0.280 | 15 | 55205623 | stop gained | G/A | snv | 6.8E-05 | 6.3E-05 | 0.700 | 0 | ||||||
|
2 | 15 | 73323818 | missense variant | C/A;T | snv | 3.2E-03 | 0.700 | 0 | |||||||||
|
9 | 0.882 | 0.160 | X | 78011239 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
3 | 1 | 235806165 | missense variant | G/T | snv | 0.700 | 0 | ||||||||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
6 | 0.851 | 0.240 | 12 | 6334161 | missense variant | A/C;G | snv | 1.6E-04; 4.8E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 12 | 109595148 | missense variant | G/A | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
41 | 0.627 | 0.640 | 21 | 45537880 | missense variant | T/C;G | snv | 0.55; 4.4E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.040 | 2 | 207666959 | non coding transcript exon variant | C/T | snv | 0.26 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
12 | 0.776 | 0.280 | 19 | 41970540 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 0.925 | 0.040 | 13 | 95210754 | missense variant | C/A | snv | 4.9E-02 | 3.0E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
3 | 0.925 | 0.080 | 9 | 133436943 | missense variant | C/T | snv | 5.8E-03 | 2.3E-03 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
5 | 0.882 | 0.120 | 19 | 38444211 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
5 | 0.925 | 0.120 | 3 | 89341043 | missense variant | C/A | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1 | 247425398 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
4 | 0.882 | 0.120 | 2 | 165308751 | missense variant | C/T | snv | 2.0E-05 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
9 | 0.790 | 0.080 | 2 | 165992332 | missense variant | C/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.080 | 2 | 207666398 | intron variant | T/C | snv | 0.22 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.040 | 17 | 37611503 | 3 prime UTR variant | G/A | snv | 0.42 | 0.010 | 1.000 | 1 | 2020 | 2020 |