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 | 3 | 66452557 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
5 | 0.882 | 0.040 | 7 | 55091656 | intron variant | A/G;T | snv | 0.20 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.040 | 1 | 243688645 | intron variant | G/C | snv | 0.20 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.040 | 1 | 244811284 | intergenic variant | C/T | snv | 0.20 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1.000 | 0.040 | 1 | 60202030 | intergenic variant | C/T | snv | 0.12 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
51 | 0.605 | 0.520 | 2 | 208248389 | missense variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
4 | 0.882 | 0.040 | 12 | 75848895 | intron variant | A/G | snv | 0.48 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.040 | 1 | 211337552 | intron variant | A/G | snv | 0.13 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
4 | 0.882 | 0.040 | 1 | 64763616 | intron variant | T/C | snv | 0.13 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.040 | 12 | 75869771 | intron variant | T/A | snv | 0.47 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.040 | 1 | 74782438 | intergenic variant | G/A | snv | 0.65 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
14 | 0.742 | 0.400 | 9 | 22043927 | intron variant | A/G | snv | 0.28 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1.000 | 0.040 | 1 | 4364085 | intergenic variant | G/A;T | snv | 0.11 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1.000 | 0.040 | 1 | 54584133 | intron variant | G/A | snv | 0.20 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
5 | 0.882 | 0.040 | 3 | 169862183 | intron variant | G/A | snv | 0.25 | 0.800 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 1.000 | 0.040 | 20 | 63691653 | intron variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
5 | 0.882 | 0.040 | 7 | 54911231 | intergenic variant | C/T | snv | 0.27 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
10 | 0.763 | 0.080 | 20 | 63680946 | intron variant | T/C | snv | 0.81 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.882 | 0.040 | 16 | 73898 | intron variant | A/T | snv | 0.67 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
29 | 0.667 | 0.560 | 5 | 1288432 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
8 | 0.807 | 0.080 | 17 | 7675353 | 5 prime UTR variant | C/T | snv | 1.3E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.882 | 0.040 | 12 | 106419124 | intron variant | T/C | snv | 0.22 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
2 | 1.000 | 0.040 | 1 | 204539019 | intron variant | G/A | snv | 0.17 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
7 | 0.807 | 0.200 | 20 | 63686867 | non coding transcript exon variant | T/C | snv | 8.8E-02 | 0.800 | 1.000 | 1 | 2009 | 2009 |