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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
33 | 0.641 | 0.680 | 11 | 34438684 | upstream gene variant | C/T | snv | 0.16 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
18 | 0.708 | 0.400 | 15 | 51210789 | 3 prime UTR variant | G/A | snv | 0.45 | 0.43 | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||
|
1 | 1.000 | 0.080 | 5 | 150227185 | intron variant | T/C | snv | 0.24 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 11 | 78230030 | intron variant | T/C | snv | 0.30 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.080 | 5 | 138496342 | intergenic variant | A/T | snv | 0.13 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.080 | 5 | 180633804 | intron variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
7 | 0.851 | 0.160 | 15 | 51257402 | intron variant | G/A | snv | 0.64 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.120 | 8 | 142612823 | 3 prime UTR variant | G/A | snv | 0.47 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 8 | 94979792 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 0.882 | 0.080 | 11 | 121612692 | non coding transcript exon variant | C/T | snv | 0.55 | 0.55 | 0.040 | 1.000 | 4 | 2009 | 2018 | |||
|
1 | 1.000 | 0.080 | 8 | 27354759 | intron variant | A/C | snv | 0.44 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
5 | 0.925 | 0.080 | 19 | 44903416 | 3 prime UTR variant | G/A | snv | 0.28 | 0.700 | 1.000 | 3 | 2009 | 2012 | ||||
|
2 | 0.925 | 0.200 | 14 | 64309058 | intron variant | C/T | snv | 0.17 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.120 | 14 | 30678292 | intron variant | C/T | snv | 0.46 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 18 | 54355010 | intron variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.080 | 2 | 110225473 | intron variant | A/G | snv | 0.29 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 2 | 127082205 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 0.925 | 0.120 | 2 | 127094445 | intron variant | G/A;C | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 0.925 | 0.080 | 4 | 6759326 | upstream gene variant | G/T | snv | 0.14 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 21 | 20983528 | intergenic variant | G/A | snv | 0.40 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
63 | 0.568 | 0.800 | 17 | 34252769 | upstream gene variant | A/G | snv | 0.28 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 11 | 60262984 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.080 | 11 | 60262476 | intron variant | G/A | snv | 0.67 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 2 | 17592731 | intron variant | A/C | snv | 0.11 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
9 | 0.763 | 0.240 | 19 | 11113361 | missense variant | C/A;T | snv | 4.0E-06 | 0.060 | 1.000 | 6 | 1998 | 2008 |