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 | 12 | 78449114 | non coding transcript exon variant | G/A | snv | 9.1E-03 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 12 | 94325241 | intron variant | C/T | snv | 6.9E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 6 | 32443746 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
21 | 0.776 | 0.160 | 12 | 120978847 | missense variant | A/C;T | snv | 0.35 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 15 | 50770120 | upstream gene variant | A/G | snv | 0.12 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
6 | 0.925 | 0.080 | 11 | 27728178 | intron variant | T/C | snv | 0.37 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | X | 72308510 | intron variant | C/T | snv | 0.31 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 17 | 68273941 | missense variant | A/G | snv | 0.12 | 0.11 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 12 | 112862964 | intron variant | T/C | snv | 0.49 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 20 | 54062115 | intron variant | A/G | snv | 0.64 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 2 | 121605302 | intron variant | C/T | snv | 0.12 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 16 | 69666298 | intron variant | A/G | snv | 0.10 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
3 | 1.000 | 0.080 | 2 | 27512105 | intron variant | G/A | snv | 0.58 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 11 | 87508051 | regulatory region variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
2 | 17 | 61406955 | non coding transcript exon variant | A/G | snv | 0.68 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 10 | 102810527 | intron variant | T/A;C;G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
2 | 15 | 53651121 | intron variant | C/A | snv | 0.37 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
24 | 12 | 111280427 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 6 | 20720587 | intron variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 |