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 | 17 | 51536424 | regulatory region variant | G/A | snv | 0.25 | 0.800 | 1.000 | 5 | 2010 | 2019 | ||||||
|
4 | 0.925 | 0.120 | 6 | 104931079 | intron variant | C/T | snv | 0.62 | 0.800 | 1.000 | 4 | 2009 | 2018 | ||||
|
2 | 15 | 60489314 | 3 prime UTR variant | T/C | snv | 0.31 | 0.800 | 1.000 | 3 | 2010 | 2019 | ||||||
|
1 | 19 | 18707093 | intron variant | C/A;T | snv | 0.800 | 1.000 | 2 | 2010 | 2014 | |||||||
|
1 | 9 | 106157939 | intron variant | G/T | snv | 0.36 | 0.800 | 1.000 | 2 | 2009 | 2018 | ||||||
|
1 | 0.925 | 0.080 | 7 | 41430495 | intergenic variant | C/G | snv | 0.13 | 0.800 | 1.000 | 2 | 2010 | 2014 | ||||
|
8 | 0.851 | 0.200 | 4 | 45180510 | intergenic variant | A/G | snv | 0.37 | 0.800 | 1.000 | 2 | 2010 | 2019 | ||||
|
1 | 2 | 141470940 | intron variant | C/A;T | snv | 0.800 | 1.000 | 2 | 2010 | 2014 | |||||||
|
1 | 16 | 69554669 | TF binding site variant | T/C | snv | 0.35 | 0.800 | 1.000 | 2 | 2010 | 2014 | ||||||
|
1 | 19 | 9889646 | intron variant | C/G | snv | 0.38 | 0.800 | 1.000 | 2 | 2010 | 2016 | ||||||
|
1 | 3 | 185911780 | downstream gene variant | A/G | snv | 0.36 | 0.800 | 1.000 | 2 | 2010 | 2016 | ||||||
|
1 | 1.000 | 0.040 | 9 | 106204807 | intron variant | C/A;T | snv | 0.800 | 1.000 | 2 | 2009 | 2010 | |||||
|
1 | 3 | 128176383 | intron variant | A/G | snv | 0.30 | 0.800 | 1.000 | 2 | 2010 | 2014 | ||||||
|
1 | 2 | 614168 | intergenic variant | A/G;T | snv | 0.800 | 1.000 | 2 | 2010 | 2014 | |||||||
|
1 | 1 | 165425645 | intron variant | T/A;C | snv | 0.800 | 1.000 | 2 | 2010 | 2014 | |||||||
|
1 | 6 | 99760562 | intergenic variant | A/G | snv | 0.33 | 0.800 | 1.000 | 2 | 2010 | 2014 | ||||||
|
1 | 3 | 117855975 | intron variant | A/C;T | snv | 0.800 | 1.000 | 2 | 2010 | 2016 | |||||||
|
1 | 3 | 132891908 | intergenic variant | G/A | snv | 0.63 | 0.800 | 1.000 | 2 | 2010 | 2019 | ||||||
|
1 | 3 | 50055776 | intron variant | G/A | snv | 0.64 | 0.800 | 1.000 | 2 | 2010 | 2014 | ||||||
|
1 | 3 | 86867732 | intergenic variant | A/G | snv | 0.55 | 0.800 | 1.000 | 2 | 2010 | 2014 | ||||||
|
1 | 0.925 | 0.080 | 8 | 77181601 | intergenic variant | C/A;G;T | snv | 0.800 | 1.000 | 2 | 2010 | 2014 | |||||
|
1 | 20 | 17141948 | intergenic variant | A/G | snv | 0.57 | 0.800 | 1.000 | 2 | 2010 | 2014 | ||||||
|
4 | 11 | 13272358 | upstream gene variant | C/T | snv | 0.62 | 0.800 | 1.000 | 2 | 2010 | 2016 | ||||||
|
1 | 9 | 111539305 | intron variant | C/T | snv | 0.59 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 11 | 78384327 | non coding transcript exon variant | C/A;T | snv | 0.800 | 1.000 | 1 | 2010 | 2010 |