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 | 0.833 | 36 | 2004 | 2019 | ||||
|
21 | 0.701 | 0.160 | 2 | 184913701 | intron variant | A/C;T | snv | 0.100 | 0.867 | 15 | 2011 | 2020 | |||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.030 | 1.000 | 3 | 2007 | 2008 | |||||
|
2 | 0.925 | 0.040 | 16 | 23622705 | intron variant | A/C;G | snv | 0.810 | 1.000 | 3 | 2007 | 2011 | |||||
|
1 | 1.000 | 0.040 | 11 | 66783531 | intron variant | G/A;C | snv | 0.800 | 1.000 | 2 | 2011 | 2018 | |||||
|
1 | 1.000 | 0.040 | 11 | 79351885 | intron variant | T/A;C | snv | 0.700 | 1.000 | 2 | 2013 | 2014 | |||||
|
5 | 0.882 | 0.040 | 6 | 27742386 | upstream gene variant | A/C;G | snv | 0.700 | 1.000 | 2 | 2013 | 2014 | |||||
|
3 | 0.882 | 0.040 | 22 | 38294883 | intron variant | C/A;G;T | snv | 0.020 | 1.000 | 2 | 2012 | 2018 | |||||
|
9 | 0.827 | 0.040 | 3 | 52799203 | intron variant | G/A;C | snv | 0.700 | 1.000 | 2 | 2013 | 2019 | |||||
|
3 | 0.925 | 0.040 | 2 | 112496 | intergenic variant | A/C;T | snv | 0.710 | 1.000 | 2 | 2012 | 2017 | |||||
|
2 | 0.925 | 0.040 | Y | 1614890 | upstream gene variant | G/A | snv | 0.020 | 1.000 | 2 | 2012 | 2014 | |||||
|
13 | 0.790 | 0.120 | 8 | 31638065 | upstream gene variant | C/A;T | snv | 0.020 | 1.000 | 2 | 2009 | 2017 | |||||
|
36 | 0.645 | 0.480 | 11 | 27658414 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 | 0.020 | 0.500 | 2 | 2008 | 2010 | ||||
|
2 | 0.925 | 0.040 | 5 | 138358306 | intron variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
5 | 0.851 | 0.080 | 6 | 165741969 | intron variant | G/A;T | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 6 | 166581772 | intron variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1.000 | 0.040 | 6 | 98124244 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.040 | 12 | 49073211 | upstream gene variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.040 | 10 | 60311283 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.040 | 9 | 114541631 | intergenic variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.882 | 0.040 | 5 | 141945684 | synonymous variant | T/C;G | snv | 0.98; 4.0E-06 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.040 | 12 | 2277933 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 0.925 | 0.040 | 12 | 2259508 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 |