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 | 106293321 | intergenic variant | T/C | snv | 0.38 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 1 | 11792053 | intron variant | C/T | snv | 0.10 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 15 | 74791940 | intron variant | G/C | snv | 0.67 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
10 | 0.925 | 0.120 | 4 | 80243569 | intergenic variant | C/T | snv | 0.23 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 4 | 139543924 | intron variant | G/A | snv | 2.4E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
6 | 1.000 | 0.040 | 10 | 61764833 | intron variant | C/T | snv | 0.15 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 12 | 115118002 | intergenic variant | C/G | snv | 0.18 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
4 | 12 | 89584456 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
8 | 0.925 | 0.040 | 17 | 49363104 | intron variant | A/G | snv | 0.37 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
6 | 1 | 10736490 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
3 | 7 | 102878584 | intron variant | T/C | snv | 0.24 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
226 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 0.700 | 1.000 | 1 | 2011 | 2011 | |||
|
34 | 0.683 | 0.440 | 10 | 114045297 | missense variant | G/C | snv | 0.74 | 0.69 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
5 | 15 | 90885725 | intron variant | C/T | snv | 0.28 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
3 | 1.000 | 0.040 | 3 | 169448100 | intron variant | C/T | snv | 0.57 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 12 | 89717005 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
15 | 6 | 26104404 | downstream gene variant | T/A;C;G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
5 | 12 | 111762346 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
2 | 16 | 51576036 | intron variant | G/A | snv | 0.23 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
7 | 11 | 65638129 | 5 prime UTR variant | G/T | snv | 0.15 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
5 | 1.000 | 0.040 | 12 | 114914926 | regulatory region variant | G/A | snv | 0.33 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
10 | 0.925 | 0.080 | 15 | 90894158 | intron variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
3 | 8 | 2923434 | upstream gene variant | G/A | snv | 0.25 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
9 | 0.882 | 0.080 | 12 | 89615182 | intron variant | A/G | snv | 0.14 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
10 | 0.827 | 0.080 | 1 | 11804529 | 5 prime UTR variant | T/C | snv | 0.14 | 0.700 | 1.000 | 1 | 2018 | 2018 |