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 | 4 | 189807855 | intron variant | C/T | snv | 1.5E-03 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 7 | 27203619 | intron variant | G/A | snv | 0.93 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 10 | 62805132 | missense variant | G/C;T | snv | 0.32 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 17 | 39399374 | intron variant | A/G | snv | 0.27 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
8 | 0.882 | 0.160 | 15 | 74727108 | upstream gene variant | C/T | snv | 0.20 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
9 | 0.882 | 0.160 | 15 | 74735539 | intergenic variant | C/T | snv | 0.16 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 12 | 69585737 | 5 prime UTR variant | C/T | snv | 0.39 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
13 | 1.000 | 0.040 | 8 | 125487789 | intron variant | C/G | snv | 0.37 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 2 | 227647210 | intron variant | T/C | snv | 3.9E-04 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 2 | 228295484 | intergenic variant | C/T | snv | 4.9E-05 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 2 | 227011971 | intron variant | G/A | snv | 8.4E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 17 | 81451999 | missense variant | G/A;C | snv | 0.34 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 2 | 228266570 | intergenic variant | T/C | snv | 1.5E-04 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 15 | 41514460 | upstream gene variant | G/A | snv | 0.12 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 4 | 55605384 | intron variant | A/G | snv | 0.36 | 0.29 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 4 | 189848068 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 14 | 68835682 | intergenic variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
9 | 0.882 | 0.160 | 7 | 17244953 | intron variant | T/C | snv | 0.54 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
9 | 2 | 27375230 | intron variant | T/C | snv | 0.69 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 8 | 60708054 | intron variant | G/A | snv | 0.36 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 10 | 16963744 | intron variant | G/A | snv | 1.7E-04 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 8 | 2808621 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
2 | 4 | 148211605 | intron variant | G/A | snv | 0.54 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 2 | 207024356 | intergenic variant | G/A | snv | 0.53 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 10 | 76133928 | intron variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 |