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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 5 | 56264200 | upstream gene variant | T/G | snv | 0.34 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 18 | 12747013 | intron variant | C/T | snv | 0.15 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 6 | 117694118 | stop gained | T/C;G | snv | 8.8E-05 | 8.4E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 1 | 2593476 | intron variant | G/T | snv | 0.41 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 11 | 118771376 | intron variant | A/C | snv | 0.17 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 2 | 203764087 | downstream gene variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
2 | 11 | 11114248 | intron variant | T/C | snv | 0.15 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 2 | 203874215 | downstream gene variant | G/A | snv | 0.17 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 2 | 65379519 | intron variant | T/C | snv | 0.49 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 7 | 37397251 | intron variant | A/G | snv | 0.14 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 1 | 2607299 | intron variant | C/T | snv | 0.11 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 3 | 138694820 | stop gained | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 1 | 64827766 | intron variant | A/G;T | snv | 0.62 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 2 | 30222456 | intergenic variant | A/G | snv | 0.65 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 1 | 159035859 | intron variant | A/G;T | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||||
|
2 | 2 | 65381775 | intron variant | C/T | snv | 0.45 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 1 | 150827279 | intron variant | C/T | snv | 0.42 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 11 | 118742212 | intron variant | G/A | snv | 0.24 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 1 | 64833108 | 3 prime UTR variant | A/T | snv | 0.52 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 4 | 122631659 | intron variant | A/G | snv | 5.1E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 4 | 122262050 | intron variant | A/C;G | snv | 0.13 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 4 | 122179956 | intron variant | T/C | snv | 0.13 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 7 | 140204330 | intergenic variant | T/C | snv | 0.22 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
4 | 22 | 21610472 | intron variant | G/A | snv | 0.21 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 19 | 10359243 | missense variant | G/A;C | snv | 7.2E-03; 4.1E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 |