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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
62 | 0.658 | 0.400 | 2 | 27518370 | intron variant | T/C | snv | 0.67 | 0.800 | 1.000 | 10 | 2007 | 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 | 1.000 | 0.080 | 8 | 19975135 | regulatory region variant | G/T | snv | 8.8E-02 | 0.800 | 1.000 | 6 | 2007 | 2019 | ||||
|
43 | 0.708 | 0.520 | 19 | 44919689 | downstream gene variant | A/G | snv | 0.18 | 0.800 | 1.000 | 5 | 2007 | 2018 | ||||
|
24 | 0.708 | 0.440 | 2 | 21009323 | synonymous variant | G/A | snv | 0.39 | 0.38 | 0.800 | 1.000 | 3 | 2007 | 2019 | |||
|
18 | 0.790 | 0.240 | 16 | 56961324 | upstream gene variant | C/A;G | snv | 0.51; 5.7E-06 | 0.700 | 1.000 | 2 | 2007 | 2009 | ||||
|
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 | |||
|
11 | 0.851 | 0.200 | 7 | 73568544 | 3 prime UTR variant | C/T | snv | 0.11 | 0.800 | 1.000 | 9 | 2008 | 2019 | ||||
|
17 | 0.807 | 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 | 0.925 | 0.080 | 8 | 19990179 | intergenic variant | C/A | snv | 8.4E-02 | 0.800 | 1.000 | 6 | 2008 | 2019 | ||||
|
4 | 11 | 116748357 | 3 prime UTR variant | C/G;T | snv | 0.800 | 1.000 | 5 | 2008 | 2019 | |||||||
|
4 | 8 | 19961928 | intron variant | A/G | snv | 0.37 | 0.800 | 1.000 | 5 | 2008 | 2019 | ||||||
|
4 | 1.000 | 0.080 | 1 | 62726106 | regulatory region variant | C/T | snv | 0.16 | 0.800 | 1.000 | 4 | 2008 | 2019 | ||||
|
16 | 0.776 | 0.200 | 8 | 125474167 | intron variant | A/G | snv | 0.49 | 0.800 | 1.000 | 4 | 2008 | 2019 | ||||
|
8 | 0.851 | 0.120 | 1 | 62583922 | intron variant | C/G;T | snv | 0.800 | 1.000 | 4 | 2008 | 2019 | |||||
|
7 | 0.882 | 0.040 | 1 | 230159169 | intron variant | C/T | snv | 0.44 | 0.800 | 1.000 | 4 | 2008 | 2018 | ||||
|
6 | 1.000 | 0.040 | 11 | 116781491 | intron variant | C/T | snv | 0.11 | 0.800 | 1.000 | 3 | 2008 | 2019 | ||||
|
5 | 11 | 116736721 | regulatory region variant | C/G;T | snv | 0.800 | 1.000 | 3 | 2008 | 2019 | |||||||
|
8 | 0.882 | 0.120 | 19 | 19547663 | downstream gene variant | G/T | snv | 0.10 | 0.800 | 1.000 | 3 | 2008 | 2012 | ||||
|
1 | 11 | 116861796 | intron variant | G/T | snv | 0.80 | 0.86 | 0.800 | 1.000 | 3 | 2008 | 2019 | |||||
|
4 | 8 | 19961817 | intron variant | T/C | snv | 9.0E-02 | 0.800 | 1.000 | 3 | 2008 | 2019 | ||||||
|
8 | 1.000 | 0.040 | 15 | 58382496 | intron variant | G/C | snv | 0.24 | 0.800 | 1.000 | 3 | 2008 | 2018 | ||||
|
4 | 8 | 19985951 | intergenic variant | C/A;T | snv | 0.700 | 1.000 | 2 | 2008 | 2012 | |||||||
|
23 | 0.708 | 0.400 | 11 | 61785208 | non coding transcript exon variant | G/T | snv | 0.28 | 0.800 | 1.000 | 2 | 2008 | 2018 |