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 | 8 | 61141904 | intron variant | C/A | snv | 0.23 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 8 | 30125002 | intron variant | T/A;C | snv | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1 | 8 | 130021250 | upstream gene variant | A/G | snv | 0.36 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 9 | 116419515 | intergenic variant | G/A | snv | 0.27 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 5 | 128380874 | intron variant | C/A;T | snv | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1 | 10 | 102988961 | intron variant | A/G | snv | 0.41 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 1 | 54202605 | intron variant | A/G | snv | 0.35 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 3 | 67093414 | regulatory region variant | T/A | snv | 0.32 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
11 | 0.752 | 0.280 | 19 | 41345604 | intron variant | C/A | snv | 0.51 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 11 | 10652192 | missense variant | T/A;C | snv | 0.76 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 6 | 131125651 | regulatory region variant | C/A;G;T | snv | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1 | 10 | 51029595 | intron variant | T/C | snv | 0.88 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 12 | 131840694 | missense variant | G/A;T | snv | 0.47 | 0.46 | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 0.925 | 0.040 | 2 | 233919016 | intron variant | G/A | snv | 7.8E-02 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 2 | 216343848 | intron variant | C/T | snv | 0.52 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 10 | 8677306 | intergenic variant | C/T | snv | 0.73 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 7 | 123736506 | intron variant | G/A | snv | 0.43 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
3 | 0.925 | 0.040 | 8 | 88535703 | intron variant | C/T | snv | 0.23 | 0.720 | 0.667 | 3 | 2013 | 2017 | ||||
|
2 | 1.000 | 0.040 | 1 | 115134562 | regulatory region variant | T/C | snv | 0.14 | 0.720 | 1.000 | 3 | 2013 | 2018 | ||||
|
1 | 10 | 33179196 | 3 prime UTR variant | A/G | snv | 0.21 | 0.710 | 1.000 | 2 | 2016 | 2018 | ||||||
|
3 | 14 | 93129246 | regulatory region variant | A/C;T | snv | 0.700 | 1.000 | 2 | 2016 | 2016 | |||||||
|
1 | 1 | 156486509 | intron variant | -/T | delins | 0.700 | 1.000 | 2 | 2012 | 2013 | |||||||
|
2 | 11 | 10652497 | intron variant | C/G | snv | 0.78 | 0.700 | 1.000 | 2 | 2016 | 2016 | ||||||
|
1 | 7 | 111688341 | intergenic variant | A/T | snv | 0.12 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 9 | 29372503 | intergenic variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 |