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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.100 | 0.957 | 23 | 2003 | 2019 | ||||
|
42 | 0.623 | 0.520 | X | 114731326 | missense variant | C/G;T | snv | 0.040 | 1.000 | 4 | 2001 | 2018 | |||||
|
31 | 0.708 | 0.320 | 6 | 35639794 | intron variant | T/A;C | snv | 0.030 | 0.667 | 3 | 2010 | 2018 | |||||
|
21 | 0.701 | 0.160 | 2 | 184913701 | intron variant | A/C;T | snv | 0.020 | 1.000 | 2 | 2011 | 2017 | |||||
|
9 | 0.790 | 0.320 | 12 | 121162450 | missense variant | T/A;C;G | snv | 0.51 | 0.020 | 1.000 | 2 | 2011 | 2012 | ||||
|
4 | 0.882 | 0.040 | 5 | 63960164 | intron variant | A/C;G | snv | 0.020 | 1.000 | 2 | 2010 | 2013 | |||||
|
51 | 0.590 | 0.800 | 6 | 159692720 | missense variant | G/A;T | snv | 8.0E-06 | 0.020 | 0.500 | 2 | 2006 | 2013 | ||||
|
2 | 1.000 | 0.040 | 9 | 23318435 | intron variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
2 | 1.000 | 0.040 | 11 | 47164873 | 3 prime UTR variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 1.000 | 0.040 | 9 | 23341717 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 0.040 | 10 | 104694914 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 0.040 | 11 | 127110970 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
6 | 0.851 | 0.200 | 7 | 87601024 | 5 prime UTR variant | A/G | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
2 | 1.000 | 0.040 | 2 | 211813206 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 13 | 42101357 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
2 | 1.000 | 0.040 | 11 | 50818695 | intergenic variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 0.040 | 1 | 106683737 | intergenic variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
12 | 0.763 | 0.440 | 7 | 87536472 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
2 | 1.000 | 0.040 | 17 | 2671527 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 1.000 | 0.040 | 18 | 55431862 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 0.040 | 3 | 107561639 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 0.040 | 9 | 23378490 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
6 | 0.882 | 0.080 | 3 | 89399325 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 0.040 | 5 | 88663205 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 |