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 | 0.872 | 78 | 2003 | 2019 | ||||
|
21 | 0.701 | 0.160 | 2 | 184913701 | intron variant | A/C;T | snv | 0.900 | 0.873 | 63 | 2008 | 2019 | |||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.100 | 0.684 | 19 | 2005 | 2020 | |||||
|
13 | 0.790 | 0.120 | 8 | 31638065 | upstream gene variant | C/A;T | snv | 0.100 | 0.900 | 10 | 2008 | 2019 | |||||
|
3 | 0.925 | 0.040 | 18 | 55487771 | intron variant | A/C;G | snv | 0.880 | 1.000 | 10 | 2009 | 2018 | |||||
|
51 | 0.590 | 0.800 | 6 | 159692720 | missense variant | G/A;T | snv | 8.0E-06 | 0.090 | 0.667 | 9 | 2000 | 2015 | ||||
|
34 | 0.776 | 0.520 | 4 | 102267552 | missense variant | C/A;T | snv | 4.0E-06; 4.5E-02 | 0.750 | 1.000 | 7 | 2015 | 2019 | ||||
|
3 | 1.000 | 0.040 | 15 | 90883330 | 3 prime UTR variant | G/A;C | snv | 0.720 | 1.000 | 7 | 2014 | 2019 | |||||
|
3 | 0.925 | 0.040 | 16 | 13656002 | intergenic variant | T/A;C | snv | 0.700 | 1.000 | 7 | 2014 | 2019 | |||||
|
7 | 0.807 | 0.120 | 13 | 105516850 | intergenic variant | C/A;T | snv | 0.070 | 0.714 | 7 | 2006 | 2018 | |||||
|
5 | 0.882 | 0.040 | 6 | 27742386 | upstream gene variant | A/C;G | snv | 0.800 | 1.000 | 6 | 2009 | 2014 | |||||
|
6 | 0.827 | 0.080 | 8 | 31616625 | intergenic variant | T/A;C | snv | 0.060 | 1.000 | 6 | 2009 | 2018 | |||||
|
2 | 1.000 | 0.040 | 11 | 123523928 | intron variant | G/C;T | snv | 0.700 | 1.000 | 6 | 2014 | 2019 | |||||
|
3 | 1.000 | 0.040 | 18 | 55532886 | intron variant | A/G;T | snv | 0.700 | 1.000 | 6 | 2014 | 2019 | |||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.050 | 0.600 | 5 | 2001 | 2019 | ||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.050 | 0.800 | 5 | 2006 | 2010 | ||||
|
2 | 1.000 | 0.040 | 11 | 109507345 | intron variant | C/G;T | snv | 0.700 | 1.000 | 5 | 2014 | 2019 | |||||
|
2 | 1.000 | 0.040 | 2 | 144383974 | intron variant | A/C;T | snv | 0.810 | 1.000 | 5 | 2013 | 2019 | |||||
|
11 | 0.790 | 0.160 | 11 | 113475529 | intron variant | -/G | delins | 0.050 | 1.000 | 5 | 2007 | 2019 | |||||
|
2 | 1.000 | 0.040 | 5 | 138515503 | intron variant | C/A;G;T | snv | 0.700 | 1.000 | 5 | 2014 | 2019 | |||||
|
1 | 1.000 | 0.040 | 12 | 91853010 | regulatory region variant | C/A;G | snv | 0.700 | 1.000 | 5 | 2014 | 2019 | |||||
|
1 | 1.000 | 0.040 | 22 | 42207808 | intron variant | C/A;T | snv | 0.700 | 1.000 | 5 | 2014 | 2019 | |||||
|
2 | 1.000 | 0.040 | 2 | 197439853 | upstream gene variant | G/A;C | snv | 0.700 | 1.000 | 5 | 2014 | 2019 | |||||
|
1 | 1.000 | 0.040 | 17 | 18055088 | intron variant | G/A;T | snv | 0.700 | 1.000 | 5 | 2014 | 2019 | |||||
|
2 | 1.000 | 0.040 | 4 | 169705401 | intron variant | T/A;C | snv | 0.700 | 1.000 | 4 | 2014 | 2018 |