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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 13 | 68665820 | intergenic variant | A/G | snv | 0.61 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||||
|
1 | 13 | 68701828 | intergenic variant | T/A | snv | 0.58 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||||
|
1 | 14 | 23755826 | downstream gene variant | T/C | snv | 0.38 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||||
|
1 | 19 | 36956045 | intron variant | G/A | snv | 0.36 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||||
|
1 | 18 | 31252224 | intergenic variant | T/C | snv | 0.42 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||||
|
1 | 18 | 31252875 | intergenic variant | T/C | snv | 0.41 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||||
|
43 | 0.708 | 0.520 | 19 | 44919689 | downstream gene variant | A/G | snv | 0.18 | 0.800 | 1.000 | 8 | 2009 | 2018 | ||||
|
25 | 0.752 | 0.240 | 1 | 109275908 | downstream gene variant | C/T | snv | 0.74 | 0.800 | 1.000 | 8 | 2009 | 2019 | ||||
|
5 | 1.000 | 0.040 | 7 | 21567734 | intron variant | T/C | snv | 0.26 | 0.800 | 1.000 | 5 | 2009 | 2018 | ||||
|
13 | 0.882 | 0.080 | 15 | 58391167 | intron variant | A/G;T | snv | 0.800 | 1.000 | 5 | 2009 | 2018 | |||||
|
5 | 1 | 62652525 | intron variant | A/C;T | snv | 0.800 | 1.000 | 4 | 2009 | 2019 | |||||||
|
4 | 1 | 25442446 | intron variant | A/G | snv | 0.58 | 0.800 | 1.000 | 3 | 2009 | 2018 | ||||||
|
11 | 0.882 | 0.200 | 11 | 61829740 | intron variant | C/T | snv | 0.15 | 0.800 | 1.000 | 3 | 2009 | 2019 | ||||
|
45 | 0.662 | 0.360 | 19 | 44892362 | intron variant | A/G | snv | 0.13 | 0.13 | 0.800 | 1.000 | 3 | 2009 | 2013 | |||
|
14 | 0.790 | 0.160 | 19 | 11100236 | stop gained | C/A;G;T | snv | 1.6E-05; 8.9E-02 | 0.800 | 1.000 | 3 | 2009 | 2019 | ||||
|
5 | 1.000 | 0.080 | 19 | 19678719 | splice region variant | A/G | snv | 0.10 | 0.12 | 0.800 | 1.000 | 3 | 2009 | 2019 | |||
|
12 | 0.763 | 0.280 | 5 | 75355259 | non coding transcript exon variant | A/G | snv | 0.50 | 0.58 | 0.800 | 1.000 | 3 | 2009 | 2019 | |||
|
5 | 1.000 | 0.040 | 18 | 49640844 | TF binding site variant | T/C;G | snv | 0.700 | 1.000 | 3 | 2009 | 2018 | |||||
|
24 | 0.708 | 0.440 | 2 | 21009323 | synonymous variant | G/A | snv | 0.39 | 0.38 | 0.800 | 1.000 | 3 | 2009 | 2019 | |||
|
5 | 1.000 | 0.040 | 11 | 116733008 | TF binding site variant | C/A | snv | 9.8E-02 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
5 | 0.925 | 0.080 | 2 | 43837951 | missense variant | G/A;T | snv | 6.7E-02 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 8 | 125492484 | intron variant | T/C | snv | 0.43 | 0.800 | 1.000 | 1 | 2009 | 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 | 10 | 2010 | 2019 | |||
|
47 | 0.716 | 0.440 | 11 | 116778201 | 3 prime UTR variant | G/C | snv | 0.82 | 0.800 | 1.000 | 9 | 2010 | 2019 | ||||
|
12 | 0.807 | 0.240 | 5 | 75360714 | 3 prime UTR variant | T/C;G | snv | 0.37 | 0.800 | 1.000 | 8 | 2010 | 2019 |