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 | 1.000 | 0.040 | 10 | 67908257 | intron variant | G/T | snv | 0.47 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
12 | 0.790 | 0.120 | 17 | 45802681 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 12 | 21839392 | intron variant | G/A | snv | 0.19 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
4 | 0.925 | 0.080 | 4 | 120232669 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 1 | 159740727 | intergenic variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
52 | 0.597 | 0.680 | 2 | 112832813 | synonymous variant | G/A | snv | 0.19 | 0.19 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
10 | 0.790 | 0.320 | 2 | 112830725 | intron variant | C/T | snv | 0.29 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.925 | 0.080 | 9 | 4860267 | missense variant | C/T | snv | 2.6E-03 | 2.3E-03 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
12 | 0.827 | 0.160 | 4 | 55457430 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
11 | 0.807 | 0.080 | 1 | 11801287 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
7 | 0.851 | 0.120 | 7 | 87584585 | intron variant | C/T | snv | 0.39 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.925 | 0.120 | 13 | 33016046 | upstream gene variant | G/A | snv | 0.17 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1 | 7811169 | intron variant | T/C | snv | 0.20 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
5 | 0.882 | 0.120 | 11 | 58624189 | synonymous variant | C/T | snv | 0.010 | < 0.001 | 1 | 2006 | 2006 | |||||
|
3 | 0.925 | 0.040 | 8 | 16992890 | 3 prime UTR variant | G/A | snv | 5.5E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 1.000 | 0.040 | 16 | 55698539 | missense variant | T/C | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
1 | 7 | 145416641 | intergenic variant | G/T | snv | 0.010 | < 0.001 | 1 | 2017 | 2017 | |||||||
|
1 | 4 | 47320137 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
6 | 0.882 | 0.080 | 3 | 89399325 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 6 | 6016936 | intergenic variant | A/G | snv | 0.17 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 1.000 | 0.040 | 5 | 104734216 | intron variant | A/G | snv | 0.77 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
27 | 0.677 | 0.280 | 22 | 19969258 | 3 prime UTR variant | G/A | snv | 0.56 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
11 | 0.807 | 0.120 | 22 | 19965038 | 3 prime UTR variant | G/A | snv | 0.27 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
5 | 0.925 | 0.120 | 8 | 27595330 | downstream gene variant | G/A | snv | 0.15 | 0.010 | 1.000 | 1 | 2019 | 2019 |