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 | 5 | 11320426 | intron variant | G/T | snv | 0.24 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 11 | 124568716 | intron variant | C/T | snv | 0.40 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 12 | 127745489 | regulatory region variant | T/C | snv | 0.14 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 9 | 25211195 | intergenic variant | C/T | snv | 5.4E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 17 | 49969496 | missense variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1 | 15 | 40732105 | 3 prime UTR variant | T/C | snv | 0.49 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1 | 17967858 | intergenic variant | G/A | snv | 0.70 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 8 | 38030595 | missense variant | A/G | snv | 9.2E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 11 | 81336231 | intron variant | A/C | snv | 0.25 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 8 | 86631513 | intron variant | A/G | snv | 0.16 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 5 | 7448683 | intron variant | C/T | snv | 2.7E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 5 | 84175168 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 16 | 73114768 | intron variant | G/T | snv | 0.17 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 7 | 128254252 | intron variant | G/A | snv | 0.37 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 4 | 170014094 | intron variant | A/G | snv | 0.44 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 1 | 204105737 | intron variant | C/T | snv | 0.51 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 20 | 42441919 | intron variant | T/C | snv | 0.30 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 7 | 3636370 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 4 | 134774652 | intron variant | C/T | snv | 2.2E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 2 | 232784580 | intron variant | T/C | snv | 0.14 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 3 | 13752941 | intergenic variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
262 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 0.020 | 1.000 | 2 | 2008 | 2012 | |||
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.100 | 1.000 | 34 | 2005 | 2019 | |||
|
249 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 0.100 | 0.931 | 29 | 2004 | 2019 |