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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 0.790 | 0.080 | 14 | 70937529 | intron variant | -/A | delins | 4.2E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.080 | 3 | 37048526 | frameshift variant | -/ATTG | delins | 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
9 | 0.790 | 0.080 | 5 | 96794169 | intron variant | -/C | delins | 2.1E-05 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
10 | 0.763 | 0.120 | 10 | 87864059 | 5 prime UTR variant | -/G | delins | 7.2E-06 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
10 | 0.776 | 0.080 | 13 | 33518027 | intron variant | -/TAA | delins | 6.0E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.925 | 0.160 | 2 | 47806588 | stop gained | -/TCAAAAGGGACATAGAAAA | delins | 7.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.160 | 2 | 47429865 | frameshift variant | -/TT | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.080 | 10 | 86892181 | frameshift variant | -/TTAG | delins | 0.700 | 0 | ||||||||
|
18 | 0.716 | 0.240 | 8 | 116618444 | intergenic variant | A/C | snv | 9.3E-02 | 0.710 | 1.000 | 7 | 2008 | 2019 | ||||
|
9 | 0.790 | 0.080 | 1 | 183112059 | intron variant | A/C | snv | 0.37 | 0.700 | 1.000 | 2 | 2013 | 2019 | ||||
|
4 | 0.851 | 0.200 | 4 | 186069983 | intron variant | A/C | snv | 0.12 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
9 | 0.790 | 0.080 | 15 | 81937658 | intron variant | A/C | snv | 7.4E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
9 | 0.790 | 0.080 | 1 | 239918447 | upstream gene variant | A/C | snv | 0.45 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.080 | 4 | 99317955 | non coding transcript exon variant | A/C | snv | 0.71 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
12 | 0.776 | 0.080 | 20 | 34625392 | intron variant | A/C | snv | 0.55 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
9 | 0.790 | 0.080 | 2 | 45181130 | intron variant | A/C | snv | 0.52 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
24 | 0.677 | 0.360 | 12 | 25209618 | 3 prime UTR variant | A/C | snv | 0.46 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
7 | 0.827 | 0.080 | 9 | 6365683 | intergenic variant | A/C | snv | 0.34 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
9 | 0.790 | 0.080 | 17 | 913501 | intron variant | A/C | snv | 9.9E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
10 | 0.776 | 0.080 | 16 | 68710036 | intron variant | A/C | snv | 0.25 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | 3 | 12416825 | missense variant | A/C | snv | 0.700 | 0 | ||||||||
|
10 | 0.807 | 0.120 | 11 | 48123823 | missense variant | A/C | snv | 0.17 | 0.15 | 0.700 | 0 | ||||||
|
3 | 0.925 | 0.080 | 19 | 41352923 | missense variant | A/C;G | snv | 1.9E-05 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
10 | 0.790 | 0.080 | 16 | 78042662 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2015 | 2015 |