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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
81 | 0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 | 0.800 | 1.000 | 23 | 2008 | 2019 | |||
|
47 | 0.716 | 0.440 | 11 | 116778201 | 3 prime UTR variant | G/C | snv | 0.82 | 0.800 | 1.000 | 22 | 2009 | 2019 | ||||
|
10 | 0.882 | 0.080 | 8 | 19986711 | intergenic variant | A/G | snv | 1.0E-01 | 0.800 | 1.000 | 13 | 2009 | 2019 | ||||
|
14 | 0.807 | 0.160 | 8 | 125478730 | intron variant | A/T | snv | 0.42 | 0.800 | 1.000 | 13 | 2009 | 2019 | ||||
|
62 | 0.658 | 0.400 | 2 | 27518370 | intron variant | T/C | snv | 0.67 | 0.800 | 1.000 | 10 | 2007 | 2019 | ||||
|
25 | 0.776 | 0.240 | 19 | 19296909 | intron variant | T/C | snv | 0.10 | 0.800 | 1.000 | 9 | 2010 | 2019 | ||||
|
11 | 0.851 | 0.200 | 7 | 73568544 | 3 prime UTR variant | C/T | snv | 0.11 | 0.800 | 1.000 | 9 | 2008 | 2019 | ||||
|
17 | 0.851 | 0.360 | 11 | 116791863 | 5 prime UTR variant | C/T | snv | 0.88 | 0.89 | 0.800 | 1.000 | 9 | 2012 | 2019 | |||
|
19 | 0.732 | 0.440 | 8 | 19962213 | stop gained | C/G | snv | 9.2E-02 | 9.0E-02 | 0.800 | 1.000 | 8 | 2007 | 2019 | |||
|
8 | 0.851 | 0.200 | 19 | 44911194 | non coding transcript exon variant | T/C | snv | 0.68 | 0.800 | 1.000 | 8 | 2009 | 2019 | ||||
|
33 | 0.689 | 0.480 | 11 | 116792991 | upstream gene variant | G/A | snv | 0.90 | 0.800 | 1.000 | 8 | 2012 | 2019 | ||||
|
17 | 0.807 | 0.200 | 11 | 61802358 | 3 prime UTR variant | C/T | snv | 0.28 | 0.800 | 1.000 | 7 | 2008 | 2019 | ||||
|
6 | 0.925 | 0.080 | 1 | 230159944 | intron variant | G/A | snv | 0.45 | 0.800 | 1.000 | 7 | 2008 | 2019 | ||||
|
8 | 1.000 | 0.040 | 8 | 19973410 | regulatory region variant | C/T | snv | 0.22 | 0.800 | 1.000 | 6 | 2009 | 2019 | ||||
|
15 | 0.851 | 0.240 | 2 | 21002409 | missense variant | C/T | snv | 0.70 | 0.78 | 0.800 | 1.000 | 6 | 2010 | 2019 | |||
|
8 | 0.925 | 0.080 | 8 | 19990179 | intergenic variant | C/A | snv | 8.4E-02 | 0.800 | 1.000 | 6 | 2008 | 2019 | ||||
|
3 | 19 | 44919330 | 3 prime UTR variant | A/G | snv | 3.7E-02 | 0.800 | 1.000 | 6 | 2012 | 2019 | ||||||
|
8 | 1.000 | 0.080 | 8 | 19975135 | regulatory region variant | G/T | snv | 8.8E-02 | 0.800 | 1.000 | 6 | 2007 | 2019 | ||||
|
16 | 0.790 | 0.200 | 15 | 58431476 | intron variant | C/G;T | snv | 0.30 | 0.800 | 1.000 | 6 | 2012 | 2019 | ||||
|
5 | 10 | 93079885 | downstream gene variant | G/A | snv | 0.42 | 0.800 | 1.000 | 6 | 2010 | 2019 | ||||||
|
26 | 0.732 | 0.280 | 16 | 56959412 | upstream gene variant | C/A | snv | 0.31 | 0.800 | 1.000 | 6 | 2009 | 2018 | ||||
|
30 | 0.763 | 0.240 | 2 | 27519736 | intron variant | T/C | snv | 0.68 | 0.800 | 1.000 | 6 | 2011 | 2019 | ||||
|
10 | 0.882 | 0.160 | 11 | 116782580 | intron variant | C/G;T | snv | 0.800 | 1.000 | 5 | 2011 | 2019 | |||||
|
6 | 1 | 62560271 | intron variant | G/T | snv | 0.57 | 0.800 | 1.000 | 5 | 2010 | 2019 | ||||||
|
4 | 11 | 116748357 | 3 prime UTR variant | C/G;T | snv | 0.800 | 1.000 | 5 | 2008 | 2019 |