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 | 0.882 | 0.080 | 8 | 32553698 | intron variant | C/T | snv | 0.10 | 0.850 | 0.833 | 6 | 2009 | 2019 | ||||
|
2 | 0.925 | 0.080 | 8 | 32553981 | intron variant | G/A;C;T | snv | 0.050 | 0.800 | 5 | 2014 | 2019 | |||||
|
1 | 1.000 | 0.080 | 10 | 42952399 | intergenic variant | A/G | snv | 0.35 | 0.030 | 1.000 | 3 | 2015 | 2019 | ||||
|
2 | 0.925 | 0.080 | 2 | 85587861 | intron variant | C/T | snv | 0.53 | 0.020 | 1.000 | 2 | 2016 | 2018 | ||||
|
2 | 0.925 | 0.080 | 10 | 43109070 | missense variant | G/A | snv | 5.6E-05 | 6.3E-05 | 0.020 | 1.000 | 2 | 2010 | 2016 | |||
|
2 | 0.925 | 0.080 | 10 | 43113623 | missense variant | C/G;T | snv | 0.020 | 0.500 | 2 | 1994 | 1998 | |||||
|
3 | 0.925 | 0.080 | 8 | 32543983 | intron variant | T/G | snv | 0.39 | 0.700 | 1.000 | 2 | 2014 | 2016 | ||||
|
3 | 0.882 | 0.080 | 13 | 77901181 | missense variant | C/A | snv | 2.8E-05 | 0.010 | 1.000 | 1 | 1994 | 1994 | ||||
|
2 | 0.925 | 0.080 | 13 | 77901185 | stop gained | C/G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 1997 | 1997 | ||||
|
1 | 1.000 | 0.080 | 10 | 116183122 | intron variant | A/G | snv | 0.13 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.080 | 5 | 113339402 | intron variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.080 | 13 | 77903255 | synonymous variant | G/A | snv | 8.0E-06 | 5.6E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
2 | 0.925 | 0.080 | 7 | 84692873 | intergenic variant | T/C | snv | 2.6E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 7 | 84515886 | intergenic variant | A/C | snv | 0.11 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 10 | 43238858 | intron variant | T/G | snv | 0.16 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.080 | 13 | 86134644 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.080 | 7 | 84814040 | intergenic variant | T/C | snv | 0.31 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 2 | 144399748 | missense variant | G/A;T | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.080 | 7 | 130684771 | intron variant | A/C | snv | 0.48 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 22 | 37974187 | missense variant | C/T | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
1 | 1.000 | 0.080 | 15 | 87929391 | missense variant | G/A | snv | 8.0E-04 | 5.6E-04 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
1 | 1.000 | 0.080 | 2 | 50063015 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.080 | 2 | 85593289 | 3 prime UTR variant | C/T | snv | 8.3E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.080 | 10 | 43063942 | intergenic variant | C/T | snv | 1.2E-02 | 0.710 | < 0.001 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 1 | 228050906 | synonymous variant | C/T | snv | 6.7E-04 | 5.4E-04 | 0.010 | 1.000 | 1 | 2014 | 2014 |