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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
16 | 0.716 | 0.280 | 19 | 48703728 | missense variant | G/A | snv | 0.40 | 0.47 | 0.800 | 1.000 | 3 | 2009 | 2017 | |||
|
5 | 0.925 | 0.160 | 10 | 17114152 | missense variant | A/G | snv | 0.73 | 0.72 | 0.800 | 1.000 | 2 | 2009 | 2014 | |||
|
7 | 0.925 | 0.120 | 19 | 48703160 | synonymous variant | A/G | snv | 0.38 | 0.45 | 0.800 | 1.000 | 2 | 2008 | 2014 | |||
|
11 | 0.790 | 0.200 | 19 | 48703374 | missense variant | A/T | snv | 3.6E-02 | 1.2E-02 | 0.800 | 1.000 | 1 | 2012 | 2012 | |||
|
1 | 5 | 145659268 | intron variant | T/C | snv | 6.7E-02 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 1.000 | 0.040 | 10 | 17088694 | intron variant | A/G | snv | 0.26 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 11 | 60069719 | intron variant | C/T | snv | 1.6E-02 | 2.3E-02 | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 0.925 | 0.120 | 19 | 5839735 | upstream gene variant | G/A | snv | 0.22 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 13 | 99866380 | stop gained | C/T | snv | 2.8E-02 | 2.2E-02 | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 0.925 | 0.080 | 11 | 59866020 | intron variant | G/A | snv | 0.77 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 6 | 49441774 | intron variant | G/C | snv | 0.36 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||||
|
2 | 11 | 59855905 | missense variant | C/A | snv | 8.6E-02 | 9.0E-02 | 0.700 | 1.000 | 2 | 2014 | 2017 | |||||
|
3 | 1.000 | 0.040 | 1 | 21459575 | intron variant | C/T | snv | 0.38 | 0.700 | 1.000 | 2 | 2009 | 2009 | ||||
|
2 | 9 | 98361054 | intron variant | T/C | snv | 7.9E-02 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
2 | 1 | 11898666 | intergenic variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
2 | 1 | 21563893 | intron variant | G/A | snv | 0.80 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 5 | 150806264 | intergenic variant | C/G | snv | 3.1E-03 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
174 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 0.700 | 1.000 | 1 | 2009 | 2009 | |||
|
4 | 1.000 | 0.040 | 19 | 48725015 | non coding transcript exon variant | T/C | snv | 0.37 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 19 | 5841345 | upstream gene variant | G/T | snv | 0.15 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 19 | 5840608 | upstream gene variant | C/T | snv | 0.46 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 2 | 163634019 | intron variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 |