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 | 2 | 44930414 | intron variant | C/A | snv | 0.20 | 0.700 | 1.000 | 3 | 2018 | 2018 | ||||||
|
1 | 7 | 81209661 | regulatory region variant | A/G;T | snv | 0.700 | 1.000 | 3 | 2018 | 2018 | |||||||
|
1 | 16 | 89752083 | intron variant | T/C | snv | 0.47 | 0.700 | 1.000 | 3 | 2018 | 2018 | ||||||
|
1 | 11 | 16989629 | intron variant | C/A | snv | 0.20 | 0.700 | 1.000 | 3 | 2018 | 2018 | ||||||
|
1 | 2 | 55816667 | intergenic variant | C/G | snv | 0.55 | 0.700 | 1.000 | 3 | 2018 | 2018 | ||||||
|
1 | 15 | 61659036 | intron variant | C/T | snv | 0.42 | 0.700 | 1.000 | 3 | 2018 | 2018 | ||||||
|
1 | 20 | 39910126 | regulatory region variant | T/C;G | snv | 0.700 | 1.000 | 3 | 2018 | 2018 | |||||||
|
1 | 2 | 69184385 | intron variant | A/C | snv | 0.51 | 0.700 | 1.000 | 3 | 2017 | 2018 | ||||||
|
1 | 3 | 172271486 | intron variant | T/G | snv | 0.22 | 0.700 | 1.000 | 3 | 2017 | 2018 | ||||||
|
1 | 2 | 28135884 | intron variant | C/T | snv | 0.23 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||||
|
1 | 7 | 117996057 | downstream gene variant | C/G;T | snv | 0.700 | 1.000 | 2 | 2018 | 2018 | |||||||
|
1 | 7 | 116510041 | downstream gene variant | C/A | snv | 0.28 | 0.700 | 1.000 | 2 | 2014 | 2017 | ||||||
|
1 | 18 | 76358607 | splice region variant | T/C | snv | 0.12 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||||
|
1 | 11 | 28620834 | regulatory region variant | C/A;T | snv | 0.700 | 1.000 | 2 | 2018 | 2018 | |||||||
|
1 | 17 | 9937184 | intron variant | A/G | snv | 0.49 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||||
|
1 | 9 | 75904083 | intron variant | C/T | snv | 0.31 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||||
|
1 | 9 | 127100889 | intron variant | G/A | snv | 0.31 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||||
|
1 | 1 | 36126011 | upstream gene variant | G/A | snv | 0.11 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||||
|
1 | 16 | 77504106 | intergenic variant | A/G;T | snv | 0.700 | 1.000 | 2 | 2018 | 2018 | |||||||
|
1 | 3 | 172208901 | intron variant | C/T | snv | 0.73 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||||
|
1 | 2 | 66314134 | intergenic variant | T/C | snv | 0.49 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||||
|
1 | 11 | 120418990 | intron variant | T/C | snv | 0.21 | 0.700 | 1.000 | 2 | 2015 | 2017 | ||||||
|
1 | 8 | 106951998 | intergenic variant | T/G | snv | 8.7E-02 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||||
|
1 | 4 | 100539519 | intron variant | T/A | snv | 0.14 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||||
|
1 | 9 | 4216751 | intron variant | T/C | snv | 0.25 | 0.700 | 1.000 | 2 | 2018 | 2018 |