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 | 2 | 25240614 | intron variant | G/A | snv | 0.41 | 0.41 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
157 | 0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
14 | 0.724 | 0.440 | 12 | 57764205 | intron variant | A/G | snv | 0.38 | 0.32 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
7 | 0.827 | 0.080 | 9 | 4576680 | synonymous variant | T/C | snv | 0.36 | 0.38 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
1 | 1.000 | 0.040 | 7 | 155462637 | synonymous variant | T/C | snv | 0.36 | 0.36 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
21 | 0.708 | 0.400 | 6 | 38682852 | missense variant | T/A;G | snv | 0.36 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
188 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
27 | 0.683 | 0.440 | 22 | 19963684 | synonymous variant | C/G;T | snv | 0.34 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.882 | 0.120 | 8 | 20180955 | missense variant | T/C;G | snv | 0.32 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
174 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
72 | 0.557 | 0.640 | 19 | 45364001 | missense variant | C/A;T | snv | 7.1E-06; 0.29 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
113 | 0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 | 0.010 | < 0.001 | 1 | 2010 | 2010 | ||||
|
3 | 0.925 | 0.040 | 3 | 8767498 | synonymous variant | G/A | snv | 0.29 | 0.31 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
14 | 0.742 | 0.240 | 5 | 162101274 | synonymous variant | C/T | snv | 0.28 | 0.31 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
56 | 0.620 | 0.400 | 11 | 113400106 | missense variant | G/A | snv | 0.26 | 0.26 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
53 | 0.597 | 0.720 | 4 | 71752606 | missense variant | G/A;T | snv | 1.6E-05; 0.25 | 0.020 | 1.000 | 2 | 2015 | 2018 | ||||
|
4 | 0.882 | 0.120 | 6 | 29666226 | missense variant | G/C | snv | 0.22 | 0.19 | 0.020 | 1.000 | 2 | 2009 | 2011 | |||
|
135 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
3 | 0.882 | 0.120 | 8 | 20179316 | missense variant | C/G | snv | 0.20 | 0.21 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.030 | 1.000 | 3 | 2009 | 2017 | |||
|
95 | 0.559 | 0.600 | 6 | 154039662 | missense variant | A/G | snv | 0.19 | 0.12 | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||
|
3 | 0.882 | 0.120 | 2 | 226796327 | synonymous variant | T/C | snv | 0.18 | 0.20 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
2 | 0.925 | 0.040 | 15 | 22903836 | missense variant | C/T | snv | 0.18 | 0.30 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
4 | 0.925 | 0.160 | 6 | 31557671 | synonymous variant | C/T | snv | 0.16 | 0.13 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
26 | 0.683 | 0.480 | 17 | 47283364 | missense variant | T/C | snv | 0.12 | 0.13 | 0.010 | 1.000 | 1 | 2017 | 2017 |