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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.080 | 17 | 39724728 | inframe insertion | -/ATACGTGATGGC | delins | 0.700 | 0 | ||||||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.040 | 7 | 55181318 | protein altering variant | -/GTC | ins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 9 | 33422490 | intergenic variant | -/T;TT | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 0.040 | 5 | 122074125 | stop gained | -/TACATGCTAGATTCATTTTAACTCAATACTGCCATTCAATTCTAGCAAC | ins | 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 17 | 39724745 | inframe insertion | -/TGTGGGCTC | delins | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.080 | 3 | 189625454 | intergenic variant | A/-;AA;AAA;AAAA | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 0.040 | 2 | 29222404 | missense variant | A/C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
7 | 0.790 | 0.240 | 15 | 66435116 | missense variant | A/C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
8 | 0.807 | 0.200 | 3 | 179221147 | missense variant | A/C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
10 | 0.776 | 0.160 | 3 | 179203763 | missense variant | A/C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
10 | 0.776 | 0.280 | 17 | 7673810 | missense variant | A/C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.882 | 0.160 | 10 | 103927874 | intergenic variant | A/C | snv | 0.16 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 12 | 26069812 | 3 prime UTR variant | A/C | snv | 0.76 | 0.010 | < 0.001 | 1 | 2007 | 2007 | ||||
|
5 | 0.827 | 0.280 | 6 | 30112216 | intron variant | A/C | snv | 9.2E-02 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
4 | 0.851 | 0.080 | 3 | 283727 | intron variant | A/C | snv | 0.56 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.925 | 0.080 | 15 | 78668187 | intron variant | A/C | snv | 0.35 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
16 | 0.742 | 0.160 | 19 | 45408744 | missense variant | A/C | snv | 0.21 | 0.20 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
1 | 1.000 | 0.040 | 2 | 29193849 | missense variant | A/C | snv | 8.0E-06 | 4.2E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
16 | 0.742 | 0.320 | 6 | 30064745 | 3 prime UTR variant | A/C | snv | 5.4E-02 | 5.9E-02 | 0.700 | 1.000 | 1 | 2009 | 2009 | |||
|
1 | 1.000 | 0.040 | 6 | 151962343 | intron variant | A/C | snv | 0.76 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 17 | 64055926 | missense variant | A/C | snv | 1.0E-02; 6.8E-06 | 1.0E-02 | 0.700 | 0 | ||||||
|
10 | 0.776 | 0.240 | 17 | 7673811 | missense variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
20 | 0.695 | 0.360 | 17 | 7674242 | missense variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
5 | 0.851 | 0.200 | 8 | 127738434 | missense variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 |