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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 1.000 | 0.040 | 19 | 47657765 | intron variant | G/A | snv | 3.3E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
6 | 0.882 | 0.080 | 3 | 89399325 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 1.000 | 0.040 | 8 | 56934154 | intergenic variant | C/T | snv | 3.1E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 1.000 | 0.040 | 5 | 88663205 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 0.925 | 0.040 | 3 | 141059454 | intron variant | GAG/- | delins | 0.11 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.925 | 0.040 | 11 | 33109861 | intron variant | T/C | snv | 8.0E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 1.000 | 0.040 | 18 | 37666359 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 0.925 | 0.040 | 5 | 65459777 | intron variant | A/G | snv | 4.8E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.925 | 0.040 | 20 | 19165806 | intergenic variant | G/A | snv | 9.1E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
17 | 0.724 | 0.480 | 22 | 19963746 | missense variant | G/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
2 | 1.000 | 0.040 | 6 | 28714629 | intergenic variant | G/C | snv | 3.1E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 17 | 44383518 | synonymous variant | G/A;T | snv | 6.5E-05; 4.1E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||||
|
2 | 1.000 | 0.040 | 10 | 104800467 | intron variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
6 | 0.925 | 0.080 | 11 | 27728178 | intron variant | T/C | snv | 0.37 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 1.000 | 0.040 | 4 | 150101495 | intron variant | T/C | snv | 1.6E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 1.000 | 0.040 | 3 | 35642443 | intron variant | T/G | snv | 0.36 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.925 | 0.040 | 15 | 69934284 | intergenic variant | G/A | snv | 0.95 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 1.000 | 0.040 | 17 | 45901622 | intron variant | A/G | snv | 0.29 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 12 | 121185082 | 3 prime UTR variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1 | 7 | 155082904 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
2 | 2 | 208384849 | intron variant | G/A | snv | 0.13 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 17 | 45816520 | missense variant | C/A;T | snv | 4.0E-06; 6.4E-03 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 1.000 | 0.040 | 17 | 45699947 | intron variant | A/G | snv | 0.47 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | 1 | 201918593 | intron variant | T/C | snv | 0.32 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | 18 | 53196913 | intron variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 |