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 | 0.080 | 2 | 47800544 | missense variant | A/T | snv | 3.9E-04 | 3.5E-04 | 0.700 | 1.000 | 12 | 1999 | 2012 | |||
|
1 | 1.000 | 0.080 | 2 | 47804943 | missense variant | T/C | snv | 0.700 | 1.000 | 12 | 1999 | 2012 | |||||
|
1 | 1.000 | 0.080 | 2 | 47801045 | missense variant | C/A;G | snv | 8.4E-06 | 0.700 | 1.000 | 12 | 1999 | 2012 | ||||
|
1 | 1.000 | 0.080 | 2 | 47800158 | missense variant | C/G | snv | 1.6E-05 | 7.0E-06 | 0.700 | 1.000 | 12 | 1999 | 2012 | |||
|
1 | 1.000 | 0.080 | 2 | 47800037 | missense variant | G/C | snv | 0.700 | 1.000 | 12 | 1999 | 2012 | |||||
|
1 | 1.000 | 0.080 | 2 | 47803546 | missense variant | C/G;T | snv | 7.6E-05; 4.0E-05 | 0.700 | 1.000 | 12 | 1999 | 2012 | ||||
|
1 | 1.000 | 0.080 | 2 | 47800343 | missense variant | C/G;T | snv | 0.700 | 1.000 | 12 | 1999 | 2012 | |||||
|
1 | 1.000 | 0.080 | 2 | 47800298 | missense variant | G/A | snv | 1.6E-05 | 2.1E-05 | 0.700 | 1.000 | 12 | 1999 | 2012 | |||
|
1 | 1.000 | 0.080 | 8 | 17589479 | missense variant | C/T | snv | 0.800 | 1.000 | 11 | 1995 | 2015 | |||||
|
1 | 1.000 | 0.080 | 3 | 37020399 | missense variant | G/A | snv | 4.4E-05 | 2.1E-05 | 0.700 | 1.000 | 11 | 1996 | 2008 | |||
|
1 | 1.000 | 0.080 | 3 | 37028789 | missense variant | G/A;T | snv | 2.4E-05 | 0.700 | 1.000 | 11 | 1996 | 2008 | ||||
|
1 | 1.000 | 0.080 | 3 | 37017518 | missense variant | A/G | snv | 2.5E-04 | 1.3E-04 | 0.700 | 1.000 | 11 | 1996 | 2008 | |||
|
1 | 1.000 | 0.080 | 3 | 37047589 | missense variant | A/G | snv | 0.700 | 1.000 | 11 | 1996 | 2008 | |||||
|
1 | 1.000 | 0.080 | 7 | 140781623 | missense variant | C/A | snv | 0.800 | 1.000 | 10 | 2006 | 2015 | |||||
|
1 | 1.000 | 0.080 | 7 | 140781620 | missense variant | A/C | snv | 0.800 | 1.000 | 10 | 2006 | 2015 | |||||
|
10 | 0.776 | 0.080 | 10 | 79059375 | intron variant | A/G | snv | 0.55 | 0.810 | 1.000 | 7 | 2014 | 2019 | ||||
|
11 | 0.776 | 0.080 | 10 | 8697617 | intergenic variant | T/A | snv | 0.25 | 0.810 | 1.000 | 6 | 2014 | 2019 | ||||
|
10 | 0.776 | 0.080 | 5 | 135163402 | intron variant | C/A | snv | 0.63 | 0.820 | 1.000 | 6 | 2013 | 2019 | ||||
|
13 | 0.763 | 0.080 | 18 | 48924606 | intron variant | A/G | snv | 0.87 | 0.820 | 1.000 | 6 | 2014 | 2019 | ||||
|
9 | 0.790 | 0.080 | 12 | 4259186 | intron variant | T/C | snv | 0.54 | 0.810 | 1.000 | 5 | 2013 | 2019 | ||||
|
11 | 0.763 | 0.080 | 18 | 48926786 | intron variant | A/T | snv | 0.50 | 0.730 | 1.000 | 5 | 2013 | 2019 | ||||
|
10 | 0.776 | 0.080 | 15 | 32700910 | downstream gene variant | C/T | snv | 0.11 | 0.720 | 1.000 | 5 | 2011 | 2019 | ||||
|
7 | 0.827 | 0.080 | 9 | 6365683 | intergenic variant | A/C | snv | 0.34 | 0.050 | 0.800 | 5 | 2007 | 2019 | ||||
|
3 | 0.882 | 0.080 | 15 | 32733778 | 3 prime UTR variant | C/T | snv | 0.16 | 0.730 | 1.000 | 4 | 2008 | 2015 | ||||
|
10 | 0.790 | 0.080 | 20 | 7831703 | downstream gene variant | T/C | snv | 0.29 | 0.800 | 1.000 | 4 | 2013 | 2019 |