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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.040 | 3 | 192100853 | intron variant | G/A | snv | 0.30 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 1 | 109577110 | intron variant | C/A;T | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.040 | 3 | 159926508 | intron variant | A/G | snv | 0.18 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 15 | 68304789 | intron variant | T/C;G | snv | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||
|
3 | 0.925 | 0.040 | 5 | 79533426 | upstream gene variant | A/G | snv | 0.54 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 16 | 86070536 | regulatory region variant | G/A | snv | 0.49 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
7 | 0.827 | 0.080 | 7 | 82824392 | missense variant | A/C | snv | 0.45 | 0.34 | 0.780 | 1.000 | 9 | 2009 | 2017 | |||
|
1 | 1.000 | 0.040 | 10 | 67864422 | intergenic variant | G/A;C | snv | 0.720 | 1.000 | 3 | 2018 | 2019 | |||||
|
6 | 0.827 | 0.120 | 12 | 84170289 | intron variant | G/A | snv | 0.52 | 0.720 | 1.000 | 3 | 2011 | 2017 | ||||
|
6 | 0.827 | 0.120 | 5 | 88367793 | intron variant | C/T | snv | 0.21 | 0.710 | 1.000 | 2 | 2016 | 2018 | ||||
|
12 | 0.776 | 0.160 | 10 | 60420054 | intron variant | C/T | snv | 7.5E-02 | 0.710 | 1.000 | 2 | 2011 | 2011 | ||||
|
14 | 0.732 | 0.120 | 3 | 52550771 | synonymous variant | T/C;G | snv | 0.39; 4.0E-06 | 0.34 | 0.710 | 1.000 | 2 | 2012 | 2013 | |||
|
6 | 0.827 | 0.040 | 12 | 2240418 | intron variant | G/A;C | snv | 0.710 | 1.000 | 2 | 2011 | 2016 | |||||
|
6 | 0.827 | 0.160 | 2 | 184668853 | intron variant | T/C | snv | 0.53 | 0.710 | 1.000 | 2 | 2017 | 2019 | ||||
|
1 | 1.000 | 0.040 | 13 | 66348573 | intron variant | A/G | snv | 0.46 | 0.710 | 1.000 | 2 | 2016 | 2018 | ||||
|
5 | 0.882 | 0.080 | 7 | 84008281 | intron variant | A/G | snv | 5.2E-02 | 0.710 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 7 | 82839058 | intron variant | A/G;T | snv | 0.710 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 1.000 | 0.040 | 13 | 53051646 | 3 prime UTR variant | A/G | snv | 0.58 | 0.700 | 1.000 | 4 | 2016 | 2019 | ||||
|
3 | 1.000 | 0.040 | 14 | 103551616 | upstream gene variant | A/G | snv | 0.54 | 0.700 | 1.000 | 3 | 2018 | 2019 | ||||
|
1 | 1.000 | 0.040 | 10 | 104851081 | intron variant | A/G | snv | 0.74 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||
|
2 | 0.925 | 0.120 | 1 | 72474590 | intron variant | A/G;T | snv | 0.700 | 1.000 | 2 | 2018 | 2019 | |||||
|
1 | 1.000 | 0.040 | 5 | 165096466 | intron variant | A/C | snv | 0.61 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||
|
2 | 1.000 | 0.040 | 10 | 104694914 | intron variant | T/C;G | snv | 0.700 | 1.000 | 2 | 2018 | 2018 | |||||
|
2 | 1.000 | 0.040 | 18 | 53088362 | intron variant | G/A | snv | 0.40 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 2 | 156254801 | non coding transcript exon variant | C/T | snv | 0.73 | 0.700 | 1.000 | 2 | 2018 | 2019 |